Canonical Allele Identifier: CA130122019
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs183430216
gnomAD v3: 5-157109462-A-C
gnomAD v4: 5-157109462-A-C
MyVariant Identifiers: chr5:g.156536473A>C (hg19) chr5:g.157109462A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109462A>C , CM000667.2:g.157109462A>C GRCh38
NC_000005.9:g.156536473A>C , CM000667.1:g.156536473A>C GRCh37
NC_000005.8:g.156469051A>C NCBI36
NG_030444.1:g.4776T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2500T>G ENSP00000430328.2:n.-293-2500T>G
ENST00000696899.1:c.-264-215T>G ENSP00000512960.1:n.-264-215T>G
ENST00000696901.1:c.-479T>G ENSP00000512962.1:n.-479T>G
ENST00000307851.8:c.-479T>G ENSP00000312002.4:n.-479T>G
ENST00000524219.1:c.-293-2500T>G ENSP00000430328.1:n.-293-2500T>G
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