Canonical Allele Identifier: CA1083345132
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1005142250
gnomAD v3: 5-157114753-A-G
gnomAD v4: 5-157114753-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157114753A>G , CM000667.2:g.157114753A>G GRCh38
NC_000005.9:g.156541764A>G , CM000667.1:g.156541764A>G GRCh37
NC_000005.8:g.156474342A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-7791T>C ENSP00000430328.2:n.-293-7791T>C
ENST00000524219.1:c.-293-7791T>C ENSP00000430328.1:n.-293-7791T>C
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