Canonical Allele Identifier: CA130121937
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs569562474
gnomAD v3: 5-157109240-T-C
gnomAD v4: 5-157109240-T-C
MyVariant Identifiers: chr5:g.156536251T>C (hg19) chr5:g.157109240T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109240T>C , CM000667.2:g.157109240T>C GRCh38
NC_000005.9:g.156536251T>C , CM000667.1:g.156536251T>C GRCh37
NC_000005.8:g.156468829T>C NCBI36
NG_030444.1:g.4998A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2278A>G ENSP00000430328.2:n.-293-2278A>G
ENST00000696899.1:c.-257A>G ENSP00000512960.1:n.-257A>G
ENST00000696900.1:c.-852A>G ENSP00000512961.1:n.-852A>G
ENST00000696901.1:c.-257A>G ENSP00000512962.1:n.-257A>G
ENST00000307851.8:c.-257A>G ENSP00000312002.4:n.-257A>G
ENST00000524219.1:c.-293-2278A>G ENSP00000430328.1:n.-293-2278A>G
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