Canonical Allele Identifier: CA3531919

Gene: HAVCR2

Linked Data

• ClinVar Variation Id: 1285330
• ClinVar RCV Id: RCV001702051 ; RCV003487733
• dbSNP Id: rs1036199
• ExAC: 5:156531736 C / A
• gnomAD v2: 5-156531736-C-A
• gnomAD v3: 5-157104725-C-A
• gnomAD v4: 5-157104725-C-A
• MyVariant Identifiers: chr5:g.156531736C>A (hg19) ; chr5:g.157104725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157104725C>A , CM000667.2:g.157104725C>A	GRCh38
NC_000005.9:g.156531736C>A , CM000667.1:g.156531736C>A	GRCh37
NC_000005.8:g.156464314C>A	NCBI36
NG_030444.1:g.9513G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000517358.3:c.68G>T	ENSP00000513313.1:p.Arg23Leu
ENST00000521665.2:c.68G>T	ENSP00000513314.1:p.Arg23Leu
ENST00000522593.6:c.394+1902G>T	ENSP00000430873.1:n.394+1902G>T
ENST00000524219.2:c.68G>T	ENSP00000430328.2:p.Arg23Leu
ENST00000696897.1:c.419G>T	ENSP00000512959.1:p.Arg140Leu
ENST00000696899.1:c.419G>T	ENSP00000512960.1:p.Arg140Leu
ENST00000696900.1:c.68G>T	ENSP00000512961.1:p.Arg23Leu
ENST00000696901.1:c.394+1902G>T	ENSP00000512962.1:n.394+1902G>T
ENST00000696902.1:c.419G>T	ENSP00000512963.1:p.Arg140Leu
ENST00000307851.9:c.419G>T MANE Select	ENSP00000312002.4:p.Arg140Leu
ENST00000307851.8:c.419G>T	ENSP00000312002.4:p.Arg140Leu
ENST00000521665.1:n.682G>T
ENST00000522593.5:c.394+1902G>T	ENSP00000430873.1:n.394+1902G>T
ENST00000524219.1:c.68G>T	ENSP00000430328.1:p.Arg23Leu
NM_032782.4:c.419G>T	NP_116171.3:p.Arg140Leu
NM_032782.5:c.419G>T MANE Select	NP_116171.3:p.Arg140Leu