Canonical Allele Identifier: CA361952379

Gene: HAVCR2

Linked Data

• gnomAD v4: 5-157104691-C-T
• MyVariant Identifiers: chr5:g.156531702C>T (hg19) ; chr5:g.157104691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157104691C>T , CM000667.2:g.157104691C>T	GRCh38
NC_000005.9:g.156531702C>T , CM000667.1:g.156531702C>T	GRCh37
NC_000005.8:g.156464280C>T	NCBI36
NG_030444.1:g.9547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517358.3:c.102G>A	ENSP00000513313.1:p.Met34Ile
ENST00000521665.2:c.102G>A	ENSP00000513314.1:p.Met34Ile
ENST00000522593.6:c.394+1936G>A	ENSP00000430873.1:n.394+1936G>A
ENST00000524219.2:c.102G>A	ENSP00000430328.2:p.Met34Ile
ENST00000696897.1:c.453G>A	ENSP00000512959.1:p.Met151Ile
ENST00000696899.1:c.453G>A	ENSP00000512960.1:p.Met151Ile
ENST00000696900.1:c.102G>A	ENSP00000512961.1:p.Met34Ile
ENST00000696901.1:c.394+1936G>A	ENSP00000512962.1:n.394+1936G>A
ENST00000696902.1:c.453G>A	ENSP00000512963.1:p.Met151Ile
ENST00000307851.9:c.453G>A MANE Select	ENSP00000312002.4:p.Met151Ile
ENST00000307851.8:c.453G>A	ENSP00000312002.4:p.Met151Ile
ENST00000521665.1:n.716G>A
ENST00000522593.5:c.394+1936G>A	ENSP00000430873.1:n.394+1936G>A
ENST00000524219.1:c.102G>A	ENSP00000430328.1:p.Met34Ile
NM_032782.4:c.453G>A	NP_116171.3:p.Met151Ile
NM_032782.5:c.453G>A MANE Select	NP_116171.3:p.Met151Ile