Canonical Allele Identifier: CA806209160

Gene: HAVCR2

Linked Data

• dbSNP Id: rs1333981282
• gnomAD v3: 5-157109366-T-TCC
• gnomAD v4: 5-157109366-T-TCC
• MyVariant Identifiers: chr5:g.156536377_156536378insCC (hg19) ; chr5:g.157109366_157109367insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157109367_157109368dup , CM000667.2:g.157109367_157109368dup	GRCh38
NC_000005.9:g.156536378_156536379dup , CM000667.1:g.156536378_156536379dup	GRCh37
NC_000005.8:g.156468956_156468957dup	NCBI36
NG_030444.1:g.4870_4871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524219.2:c.-293-2406_-293-2405dup	ENSP00000430328.2:n.-293-2406_-293-2405dup
ENST00000696899.1:c.-264-121_-264-120dup	ENSP00000512960.1:n.-264-121_-264-120dup
ENST00000696901.1:c.-385_-384dup	ENSP00000512962.1:n.-385_-384dup
ENST00000307851.8:c.-385_-384dup	ENSP00000312002.4:n.-385_-384dup
ENST00000524219.1:c.-293-2406_-293-2405dup	ENSP00000430328.1:n.-293-2406_-293-2405dup