Canonical Allele Identifier: CA1083342803
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1757293249
gnomAD v3: 5-157109153-T-C
gnomAD v4: 5-157109153-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109153T>C , CM000667.2:g.157109153T>C GRCh38
NC_000005.9:g.156536164T>C , CM000667.1:g.156536164T>C GRCh37
NC_000005.8:g.156468742T>C NCBI36
NG_030444.1:g.5085A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2191A>G ENSP00000430328.2:n.-293-2191A>G
ENST00000696899.1:c.-170A>G ENSP00000512960.1:n.-170A>G
ENST00000696900.1:c.-765A>G ENSP00000512961.1:n.-765A>G
ENST00000696901.1:c.-170A>G ENSP00000512962.1:n.-170A>G
ENST00000307851.8:c.-170A>G ENSP00000312002.4:n.-170A>G
ENST00000524219.1:c.-293-2191A>G ENSP00000430328.1:n.-293-2191A>G
NM_032782.4:c.-170A>G NP_116171.3:n.-170A>G
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