(used for variant description)
(last modified March 17, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_213653.3 in the HFE2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering HFE2 transcript NM_213653.3.
(upstream sequence)
. . g.5025
accgtcaactcagtagccacctccc c.-301
. . . . . . g.5085
tccctgctcagctgtccagtactctggccagccatatactcccccttccccccataccaa c.-241
. . . . . . g.5145
accttctctggttccctgacctcagtgagacagcagccggcctggggacctgggggagac c.-181
. . . . . . g.5205
acggaggaccccctggctggagctgacccacagagtagggaatcatggctggagaattgg c.-121
. . . . | 02 . . g.6531
atagcagagtaatgtttgacctctggaaaca | tcacttacagggcttccggtcaaaattca c.-61
. . . . . . g.6591
ctaggtaggagggtcatcagctgggaagaaccggcgcctgggaaacctggctggataggt c.-1
. . . . . . g.6651
ATGGGGGAGCCAGGCCAGTCCCCTAGTCCCAGGTCCTCCCATGGCAGTCCCCCAACTCTA c.60
M G E P G Q S P S P R S S H G S P P T L p.20
. . . | 03. . . g.7111
AGCACTCTCACTCTCCTGCTGCTCCTCTGTGGACATG | CTCATTCTCAATGCAAGATCCTC c.120
S T L T L L L L L C G H A | H S Q C K I L p.40
. . . . . . g.7171
CGCTGCAATGCTGAGTACGTATCGTCCACTCTGAGCCTTAGAGGTGGGGGTTCATCAGGA c.180
R C N A E Y V S S T L S L R G G G S S G p.60
. . . . . . g.7231
GCACTTCGAGGAGGAGGAGGAGGAGGCCGGGGTGGAGGGGTGGGCTCTGGCGGCCTCTGT c.240
A L R G G G G G G R G G G V G S G G L C p.80
. . . . . . g.7291
CGAGCCCTCCGCTCCTATGCGCTCTGCACTCGGCGCACCGCCCGCACCTGCCGCGGGGAC c.300
R A L R S Y A L C T R R T A R T C R G D p.100
. . . . . . g.7351
CTCGCCTTCCATTCGGCGGTACATGGCATCGAAGACCTGATGATCCAGCACAACTGCTCC c.360
L A F H S A V H G I E D L M I Q H N C S p.120
. . . . . . g.7411
CGCCAGGGCCCTACAGCCCCTCCCCCGCCCCGGGGCCCCGCCCTTCCAGGCGCGGGCTCC c.420
R Q G P T A P P P P R G P A L P G A G S p.140
. . . . . . g.7471
GGCCTCCCTGCCCCGGACCCTTGTGACTATGAAGGCCGGTTTTCCCGGCTGCATGGTCGT c.480
G L P A P D P C D Y E G R F S R L H G R p.160
. . . . . . g.7531
CCCCCGGGGTTCTTGCATTGCGCTTCCTTCGGGGACCCCCATGTGCGCAGCTTCCACCAT c.540
P P G F L H C A S F G D P H V R S F H H p.180
. . . . . . g.7591
CACTTTCACACATGCCGTGTCCAAGGAGCTTGGCCTCTACTGGATAATGACTTCCTCTTT c.600
H F H T C R V Q G A W P L L D N D F L F p.200
. . . . . | 04. g.8125
GTCCAAGCCACCAGCTCCCCCATGGCGTTGGGGGCCAACGCTACCGCCACCCGGAAG | CTC c.660
V Q A T S S P M A L G A N A T A T R K | L p.220
. . . . . . g.8185
ACCATCATATTTAAGAACATGCAGGAATGCATTGATCAGAAGGTGTATCAGGCTGAGGTG c.720
T I I F K N M Q E C I D Q K V Y Q A E V p.240
. . . . . . g.8245
GATAATCTTCCTGTAGCCTTTGAAGATGGTTCTATCAATGGAGGTGACCGACCTGGGGGA c.780
D N L P V A F E D G S I N G G D R P G G p.260
. . . . . . g.8305
TCCAGTTTGTCGATTCAAACTGCTAACCCTGGGAACCATGTGGAGATCCAAGCTGCCTAC c.840
S S L S I Q T A N P G N H V E I Q A A Y p.280
. . . . . . g.8365
ATTGGCACAACTATAATCATTCGGCAGACAGCTGGGCAGCTCTCCTTCTCCATCAAGGTA c.900
I G T T I I I R Q T A G Q L S F S I K V p.300
. . . . . . g.8425
GCAGAGGATGTGGCCATGGCCTTCTCAGCTGAACAGGACCTGCAGCTCTGTGTTGGGGGG c.960
A E D V A M A F S A E Q D L Q L C V G G p.320
. . . . . . g.8485
TGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAATCGTCGGGGAGCTATAACCATT c.1020
C P P S Q R L S R S E R N R R G A I T I p.340
. . . . . . g.8545
GATACTGCCAGACGGCTGTGCAAGGAAGGGCTTCCAGTGGAAGATGCTTACTTCCATTCC c.1080
D T A R R L C K E G L P V E D A Y F H S p.360
. . . . . . g.8605
TGTGTCTTTGATGTTTTAATTTCTGGTGATCCCAACTTTACCGTGGCAGCTCAGGCAGCA c.1140
C V F D V L I S G D P N F T V A A Q A A p.380
. . . . . . g.8665
CTGGAGGATGCCCGAGCCTTCCTGCCAGACTTAGAGAAGCTGCATCTCTTCCCCTCAGAT c.1200
L E D A R A F L P D L E K L H L F P S D p.400
. . . . . . g.8725
GCTGGGGTTCCTCTTTCCTCAGCAACCCTCTTAGCTCCACTCCTTTCTGGGCTCTTTGTT c.1260
A G V P L S S A T L L A P L L S G L F V p.420
. . g.8746
CTGTGGCTTTGCATTCAGTAA c.1281
L W L C I Q X p.426
. . . . . . g.8806
ggggaccatcagtcccattactagtttggaaatgatttggagatacagattggcatagaa c.*60
. . . . . . g.8866
gaatgtaaagaatcattaaaggaagcagggcctaggagacacgtgaaacaatgacattat c.*120
. . . . . . g.8926
ccagagtcagatgaggctgcagtccagggttgaaattatcacagaataaggattctgggc c.*180
. . . . . . g.8986
aaggttactgcattccggatctctgtggggctcttcaccaatttttccagcctcatttat c.*240
. . . . . . g.9046
agtaaacaaattgttctaatccatttactgcagatttcacccttataagtttagaggtca c.*300
. . . . . . g.9106
tgaaggttttaatgatcagtaaagatttaagggttgagatttttaagaggcaagagctga c.*360
. . . . . . g.9166
aagcagaagacatgatcattagccataagaaactcaaaggaggaagacataattagggaa c.*420
. . . . . . g.9226
agaagtctatttgatgaatatgtgtgtgtaaggtatgttctgctttcttgattcaaaaat c.*480
. . . . . . g.9286
gaagcaggcattgtctagctcttaggtgaagggagtctctgcttttgaagaatggcacag c.*540
. . . . . . g.9346
gtaggacagaagtatcatccctaccccctaactaatctgttattaaagctacaaattctt c.*600
g.9355
cacaccatc c.*609
(downstream sequence)
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