Canonical Allele Identifier: CA130122750
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1055245199
gnomAD v2: 5-156537821-A-G
gnomAD v3: 5-157110810-A-G
gnomAD v4: 5-157110810-A-G
MyVariant Identifiers: chr5:g.156537821A>G (hg19) chr5:g.157110810A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157110810A>G , CM000667.2:g.157110810A>G GRCh38
NC_000005.9:g.156537821A>G , CM000667.1:g.156537821A>G GRCh37
NC_000005.8:g.156470399A>G NCBI36
NG_030444.1:g.3428T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-3848T>C ENSP00000430328.2:n.-293-3848T>C
ENST00000696899.1:c.-264-1563T>C ENSP00000512960.1:n.-264-1563T>C
ENST00000524219.1:c.-293-3848T>C ENSP00000430328.1:n.-293-3848T>C
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