Canonical Allele Identifier: CA130121957

Gene: HAVCR2

Linked Data

• dbSNP Id: rs116551619
• gnomAD v2: 5-156536307-A-G
• gnomAD v3: 5-157109296-A-G
• gnomAD v4: 5-157109296-A-G
• MyVariant Identifiers: chr5:g.156536307A>G (hg19) ; chr5:g.157109296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157109296A>G , CM000667.2:g.157109296A>G	GRCh38
NC_000005.9:g.156536307A>G , CM000667.1:g.156536307A>G	GRCh37
NC_000005.8:g.156468885A>G	NCBI36
NG_030444.1:g.4942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524219.2:c.-293-2334T>C	ENSP00000430328.2:n.-293-2334T>C
ENST00000696899.1:c.-264-49T>C	ENSP00000512960.1:n.-264-49T>C
ENST00000696901.1:c.-313T>C	ENSP00000512962.1:n.-313T>C
ENST00000307851.8:c.-313T>C	ENSP00000312002.4:n.-313T>C
ENST00000524219.1:c.-293-2334T>C	ENSP00000430328.1:n.-293-2334T>C