Canonical Allele Identifier: CA10613921
Gene: EPAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.46297441C>T
GRCh37 chr2:g.46524580C>T
gnomAD v2:
2:46524580 C / T
gnomAD v3:
2:46297441 C / T
gnomAD v4:
chr2-46297441-C-T
Joint Max Group AF 0.17032062 (EAS)
Genomes Max Group AF 0.17243407 (EAS)
Exomes Max Group AF 0.02666311 (EAS)
ClinVar RCV:
RCV000377424
RCV001672580
ClinVar Variation:
336219
dbSNP:
17039192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46297441C>T , CM000664.2:g.46297441C>T GRCh38
NC_000002.11:g.46524580C>T , CM000664.1:g.46524580C>T GRCh37
NC_000002.10:g.46378084C>T NCBI36
NG_016000.1:g.5040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.-471C>T MANE Select ENSP00000263734.3:n.-471C>T
ENST00000263734.4:c.-471C>T ENSP00000263734.3:n.-471C>T
ENST00000449347.5:c.-170-301C>T ENSP00000406137.1:n.-170-301C>T
ENST00000460015.1:n.432+3343C>T
NM_001430.4:c.-471C>T NP_001421.2:n.-471C>T
XR_940055.1:n.2502-3294G>A
NM_001430.5:c.-471C>T MANE Select NP_001421.2:n.-471C>T
Search 100 bp 5'
Search 100 bp 3'