Canonical Allele Identifier: CA46563779
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 435064
ClinVar RCV Id: RCV000503785 RCV001141208
dbSNP Id: rs947956425
gnomAD v2: 2-46605064-T-C
gnomAD v3: 2-46377925-T-C
gnomAD v4: 2-46377925-T-C
MyVariant Identifiers: chr2:g.46605064T>C (hg19) chr2:g.46377925T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46377925T>C , CM000664.2:g.46377925T>C GRCh38
NC_000002.11:g.46605064T>C , CM000664.1:g.46605064T>C GRCh37
NC_000002.10:g.46458568T>C NCBI36
NG_016000.1:g.85524T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.1281T>C MANE Select ENSP00000263734.3:p.Tyr427=
ENST00000263734.4:c.1281T>C ENSP00000263734.3:p.Tyr427=
ENST00000483692.1:n.449T>C
NM_001430.4:c.1281T>C NP_001421.2:p.Tyr427=
XM_011532698.1:c.1320T>C XP_011531000.1:p.Tyr440=
XM_011532698.2:c.1320T>C XP_011531000.1:p.Tyr440=
NM_001430.5:c.1281T>C MANE Select NP_001421.2:p.Tyr427=
Search 100 bp 5'
Search 100 bp 3'