Canonical Allele Identifier: CA563959605

Gene: HAVCR2

Linked Data

• dbSNP Id: rs1411071984
• gnomAD v2: 5-156531674-T-C
• gnomAD v4: 5-157104663-T-C
• MyVariant Identifiers: chr5:g.156531674T>C (hg19) ; chr5:g.157104663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157104663T>C , CM000667.2:g.157104663T>C	GRCh38
NC_000005.9:g.156531674T>C , CM000667.1:g.156531674T>C	GRCh37
NC_000005.8:g.156464252T>C	NCBI36
NG_030444.1:g.9575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517358.3:c.127+3A>G	ENSP00000513313.1:n.127+3A>G
ENST00000521665.2:c.127+3A>G	ENSP00000513314.1:n.127+3A>G
ENST00000522593.6:c.394+1964A>G	ENSP00000430873.1:n.394+1964A>G
ENST00000524219.2:c.127+3A>G	ENSP00000430328.2:n.127+3A>G
ENST00000696897.1:c.478+3A>G	ENSP00000512959.1:n.478+3A>G
ENST00000696899.1:c.478+3A>G	ENSP00000512960.1:n.478+3A>G
ENST00000696900.1:c.127+3A>G	ENSP00000512961.1:n.127+3A>G
ENST00000696901.1:c.394+1964A>G	ENSP00000512962.1:n.394+1964A>G
ENST00000696902.1:c.478+3A>G	ENSP00000512963.1:n.478+3A>G
ENST00000307851.9:c.478+3A>G MANE Select	ENSP00000312002.4:n.478+3A>G
ENST00000307851.8:c.478+3A>G	ENSP00000312002.4:n.478+3A>G
ENST00000521665.1:n.741+3A>G
ENST00000522593.5:c.394+1964A>G	ENSP00000430873.1:n.394+1964A>G
ENST00000524219.1:c.127+3A>G	ENSP00000430328.1:n.127+3A>G
NM_032782.4:c.478+3A>G	NP_116171.3:n.478+3A>G
NM_032782.5:c.478+3A>G MANE Select	NP_116171.3:n.478+3A>G