Canonical Allele Identifier: CA130121927

Gene: HAVCR2

Linked Data

• dbSNP Id: rs549496189
• gnomAD v4: 5-157109237-T-C
• MyVariant Identifiers: chr5:g.156536248T>C (hg19) ; chr5:g.157109237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157109237T>C , CM000667.2:g.157109237T>C	GRCh38
NC_000005.9:g.156536248T>C , CM000667.1:g.156536248T>C	GRCh37
NC_000005.8:g.156468826T>C	NCBI36
NG_030444.1:g.5001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524219.2:c.-293-2275A>G	ENSP00000430328.2:n.-293-2275A>G
ENST00000696899.1:c.-254A>G	ENSP00000512960.1:n.-254A>G
ENST00000696900.1:c.-849A>G	ENSP00000512961.1:n.-849A>G
ENST00000696901.1:c.-254A>G	ENSP00000512962.1:n.-254A>G
ENST00000307851.8:c.-254A>G	ENSP00000312002.4:n.-254A>G
ENST00000524219.1:c.-293-2275A>G	ENSP00000430328.1:n.-293-2275A>G
NM_032782.4:c.-254A>G	NP_116171.3:n.-254A>G