(used for variant description)
(last modified July 28, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005048.3 in the PTH2R gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering PTH2R transcript NM_005048.3.
(upstream sequence)
. . . g.5033
tcgcgccgcggcgcagcagcacgcgggttctgag c.-181
. . . . . . g.5093
aagcgcgtggctccggcgacaagaccccaagcaccctcggccggtggcccgggcccgacc c.-121
. . . . . . g.5153
accccagctgcgcgtcgttactggccacaagtttgctctgggccagccaagttggcaact c.-61
. . . . . . g.5213
tggaagcttctcccgggctctggaggagggtccctgcttcttcctacagccgttccgggc c.-1
. . . . . . g.5273
ATGGCCGGGCTGGGGGCGTCGCTCCACGTCTGGGGTTGGCTAATGCTCGGCAGCTGCCTC c.60
M A G L G A S L H V W G W L M L G S C L p.20
. | 02 . . . . . g.26415
CTGGCCAGAGCCCAG | CTGGATTCTGATGGCACCATTACTATAGAGGAGCAGATTGTCCTT c.120
L A R A Q | L D S D G T I T I E E Q I V L p.40
. . . . . | 03 g.35708
GTGCTGAAAGCGAAAGTACAATGTGAACTCAACATCACAGCTCAACTCCAGGAGGGAG | AA c.180
V L K A K V Q C E L N I T A Q L Q E G E | p.60
. . . . . . g.35768
GGTAATTGTTTCCCTGAATGGGATGGACTCATTTGTTGGCCCAGAGGAACAGTGGGGAAA c.240
G N C F P E W D G L I C W P R G T V G K p.80
. . . . | 04 . g.35940
ATATCGGCTGTTCCATGCCCTCCTTATATTTATGACTTCAACCATAAAG | GAGTTGCTTTC c.300
I S A V P C P P Y I Y D F N H K G | V A F p.100
. . . . . . g.36000
CGACACTGTAACCCCAATGGAACATGGGATTTTATGCACAGCTTAAATAAAACATGGGCC c.360
R H C N P N G T W D F M H S L N K T W A p.120
. . . . . | 05 . g.40542
AATTATTCAGACTGCCTTCGCTTTCTGCAGCCAGATATCAGCATAGGAAAG | CAAGAATTC c.420
N Y S D C L R F L Q P D I S I G K | Q E F p.140
. . . . . . g.40602
TTTGAACGCCTCTATGTAATGTATACCGTTGGCTACTCCATCTCTTTTGGTTCCTTGGCT c.480
F E R L Y V M Y T V G Y S I S F G S L A p.160
. . | 06 . . . g.41548
GTGGCTATTCTCATCATTGGTTACTTCAG | ACGATTGCATTGCACTAGGAACTATATCCAC c.540
V A I L I I G Y F R | R L H C T R N Y I H p.180
. . . . . . g.41608
ATGCACTTATTTGTGTCTTTCATGCTGAGAGCTACAAGCATCTTTGTCAAAGACAGAGTA c.600
M H L F V S F M L R A T S I F V K D R V p.200
. . . . . . g.41668
GTCCATGCTCACATAGGAGTAAAGGAGCTGGAGTCCCTAATAATGCAGGATGACCCACAA c.660
V H A H I G V K E L E S L I M Q D D P Q p.220
. . . | 07 . . g.42924
AATTCCATTGAGGCAACTTCTGTGGACAAATCACAATAT | ATCGGGTGCAAGATTGCTGTT c.720
N S I E A T S V D K S Q Y | I G C K I A V p.240
. . . . . . g.42984
GTGATGTTTATTTACTTCCTGGCTACAAATTATTATTGGATCCTGGTGGAAGGTCTCTAC c.780
V M F I Y F L A T N Y Y W I L V E G L Y p.260
. . . . . . g.43044
CTGCATAATCTCATCTTTGTGGCTTTCTTTTCGGACACCAAATACCTGTGGGGCTTCATC c.840
L H N L I F V A F F S D T K Y L W G F I p.280
. | 08 . . . . . g.48965
TTGATAGGCTGGG | GGTTTCCAGCAGCATTTGTTGCAGCATGGGCTGTGGCACGAGCAACT c.900
L I G W G | F P A A F V A A W A V A R A T p.300
. | 09 . . . . . g.58110
CTGGCTGATGCGAG | GTGCTGGGAACTTAGTGCTGGAGACATCAAGTGGATTTATCAAGCA c.960
L A D A R | C W E L S A G D I K W I Y Q A p.320
. . | 10 . . . . g.79278
CCGATCTTAGCAGCTATTGGG | CTGAATTTTATTCTGTTTCTGAATACGGTTAGAGTTCTA c.1020
P I L A A I G | L N F I L F L N T V R V L p.340
. . . . . | 11 . g.87185
GCTACCAAAATCTGGGAGACCAATGCAGTTGGGCATGACACAAGGAAGCAATACAG | GAAA c.1080
A T K I W E T N A V G H D T R K Q Y R | K p.360
. . . . . . g.87245
CTGGCCAAATCGACACTGGTCCTGGTCCTAGTCTTTGGAGTGCATTACATCGTGTTCGTA c.1140
L A K S T L V L V L V F G V H Y I V F V p.380
. . . . . . g.87305
TGCCTGCCTCACTCCTTCACTGGGCTCGGGTGGGAGATCCGCATGCACTGTGAGCTCTTC c.1200
C L P H S F T G L G W E I R M H C E L F p.400
. | 12 . . . . | 13. g.91436
TTCAACTCCTTTCAG | GGTTTCTTTGTGTCTATCATCTACTGCTACTGCAATGGAGAG | GTT c.1260
F N S F Q | G F F V S I I Y C Y C N G E | V p.420
. . . . . . g.91496
CAGGCAGAGGTGAAGAAGATGTGGAGTCGGTGGAACCTCTCCGTGGACTGGAAAAGGACA c.1320
Q A E V K K M W S R W N L S V D W K R T p.440
. . . . . . g.91556
CCGCCATGTGGCAGCCGCAGATGCGGCTCAGTGCTCACCACCGTGACGCACAGCACCAGC c.1380
P P C G S R R C G S V L T T V T H S T S p.460
. . . . . . g.91616
AGCCAGTCACAGGTGGCGGCCAGCACACGCATGGTGCTTATCTCTGGCAAAGCTGCCAAG c.1440
S Q S Q V A A S T R M V L I S G K A A K p.480
. . . . . . g.91676
ATCGCCAGCAGACAGCCTGACAGCCACATCACTTTACCTGGCTATGTCTGGAGTAACTCA c.1500
I A S R Q P D S H I T L P G Y V W S N S p.500
. . . . . . g.91736
GAGCAGGACTGCCTGCCACACTCTTTCCACGAGGAGACCAAGGAAGATAGTGGGAGGCAG c.1560
E Q D C L P H S F H E E T K E D S G R Q p.520
. . . . . . g.91796
GGAGATGATATTCTAATGGAGAAGCCTTCCAGGCCTATGGAATCTAACCCAGACACTGAA c.1620
G D D I L M E K P S R P M E S N P D T E p.540
. . . g.91829
GGATGCCAAGGAGAAACTGAGGATGTTCTCTGA c.1653
G C Q G E T E D V L X p.550
. . . . . . g.91889
atggacatttgtggctgactttcatgggctggtccaatggctggttgtgtgagagggctt c.*60
. . . . . . g.91949
ggctgatactcctatgcttgagttcaaaggctgaaaattcagttaaggtgttacttaata c.*120
. . . . . . g.92009
atagtttttaggctccatgaattggctcctgtaaatactaacgacatgaaaatgcaagtg c.*180
. . . . . . g.92069
tcaatggagtagtttattaccttctattggcatcaagttttcctctaaattaatgtatgg c.*240
. . . . . . g.92129
tatttgctctgtgattgttcatttttttctgctacttttgggtagaaaaaagattcaatt c.*300
. . . . . . g.92189
gcttggctgtagctttctctcatatatatcaccctaaatataatgaagatcttttagtgt c.*360
. . . . . . g.92249
gtatcattttccttttagaaactagtattctcttatttcttactttaatgtacttctatc c.*420
. . . . . . g.92309
actgcatttattttgcctgtgcataggagcaattaggatctaaaaaaatatatgggaaga c.*480
. . . . . . g.92369
taaaagatctaagaacaagtacttgctggaaaattagttggctggacattgataaaataa c.*540
. . . . . . g.92429
tgcatttataacaattacatgtgtttctgggaacaaggaaaatttctcaaaaaagaatat c.*600
. . . . . . g.92489
ttcacacatcccttcttttgaatggcctctttgtgaccagccagacctcaggtcttcact c.*660
. . . . . . g.92549
ctttcttctttgtaaactatgtcatgtggaaagatttcctcagttagtgagcttgtgtct c.*720
. . . . . . g.92609
gcaaattgattttgtttgtaatgtattttgatagcaaatcatgctgcatctatatctttt c.*780
. . . . . . g.92669
tcttgtttgagctgttactacattgtacatggcatgtgggatcaattaaaaatttgtttt c.*840
g.92676
aaaaata c.*847
(downstream sequence)
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