Canonical Allele Identifier: CA447434175

Gene: HAVCR2

Linked Data

• dbSNP Id: rs1419297821
• gnomAD v2: 5-156541786-C-G
• gnomAD v3: 5-157114775-C-G
• gnomAD v4: 5-157114775-C-G
• MyVariant Identifiers: chr5:g.156541786C>G (hg19) ; chr5:g.157114775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157114775C>G , CM000667.2:g.157114775C>G	GRCh38
NC_000005.9:g.156541786C>G , CM000667.1:g.156541786C>G	GRCh37
NC_000005.8:g.156474364C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524219.2:c.-293-7813G>C	ENSP00000430328.2:n.-293-7813G>C
ENST00000524219.1:c.-293-7813G>C	ENSP00000430328.1:n.-293-7813G>C