Canonical Allele Identifier: CA46518583

Gene: EPAS1

Linked Data

• dbSNP Id: rs374042777
• gnomAD v2: 2-46556210-A-C
• gnomAD v3: 2-46329071-A-C
• gnomAD v4: 2-46329071-A-C
• MyVariant Identifiers: chr2:g.46556210A>C (hg19) ; chr2:g.46329071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329071A>C , CM000664.2:g.46329071A>C	GRCh38
NC_000002.11:g.46556210A>C , CM000664.1:g.46556210A>C	GRCh37
NC_000002.10:g.46409714A>C	NCBI36
NG_016000.1:g.36670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17802A>C MANE Select	ENSP00000263734.3:n.27-17802A>C
ENST00000263734.4:c.27-17802A>C	ENSP00000263734.3:n.27-17802A>C
ENST00000449347.5:c.27-17802A>C	ENSP00000406137.1:n.27-17802A>C
ENST00000460015.1:n.433-17802A>C
ENST00000467888.5:n.175-17802A>C
NM_001430.4:c.27-17802A>C	NP_001421.2:n.27-17802A>C
XM_011532698.1:c.65+3195A>C	XP_011531000.1:n.65+3195A>C
XR_940055.1:n.2355+6713T>G
XM_011532698.2:c.65+3195A>C	XP_011531000.1:n.65+3195A>C
NM_001430.5:c.27-17802A>C MANE Select	NP_001421.2:n.27-17802A>C