Canonical Allele Identifier: CA1083342828
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1757293599
gnomAD v3: 5-157109221-C-T
gnomAD v4: 5-157109221-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109221C>T , CM000667.2:g.157109221C>T GRCh38
NC_000005.9:g.156536232C>T , CM000667.1:g.156536232C>T GRCh37
NC_000005.8:g.156468810C>T NCBI36
NG_030444.1:g.5017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2259G>A ENSP00000430328.2:n.-293-2259G>A
ENST00000696899.1:c.-238G>A ENSP00000512960.1:n.-238G>A
ENST00000696900.1:c.-833G>A ENSP00000512961.1:n.-833G>A
ENST00000696901.1:c.-238G>A ENSP00000512962.1:n.-238G>A
ENST00000307851.8:c.-238G>A ENSP00000312002.4:n.-238G>A
ENST00000524219.1:c.-293-2259G>A ENSP00000430328.1:n.-293-2259G>A
NM_032782.4:c.-238G>A NP_116171.3:n.-238G>A
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