Canonical Allele Identifier: CA130122018
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs913452874
gnomAD v3: 5-157109461-A-G
gnomAD v4: 5-157109461-A-G
MyVariant Identifiers: chr5:g.156536472A>G (hg19) chr5:g.157109461A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109461A>G , CM000667.2:g.157109461A>G GRCh38
NC_000005.9:g.156536472A>G , CM000667.1:g.156536472A>G GRCh37
NC_000005.8:g.156469050A>G NCBI36
NG_030444.1:g.4777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2499T>C ENSP00000430328.2:n.-293-2499T>C
ENST00000696899.1:c.-264-214T>C ENSP00000512960.1:n.-264-214T>C
ENST00000696901.1:c.-478T>C ENSP00000512962.1:n.-478T>C
ENST00000307851.8:c.-478T>C ENSP00000312002.4:n.-478T>C
ENST00000524219.1:c.-293-2499T>C ENSP00000430328.1:n.-293-2499T>C
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