Canonical Allele Identifier: CA1594029333
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1757294729
gnomAD v4: 5-157109266-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109266G>A , CM000667.2:g.157109266G>A GRCh38
NC_000005.9:g.156536277G>A , CM000667.1:g.156536277G>A GRCh37
NC_000005.8:g.156468855G>A NCBI36
NG_030444.1:g.4972C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2304C>T ENSP00000430328.2:n.-293-2304C>T
ENST00000696899.1:c.-264-19C>T ENSP00000512960.1:n.-264-19C>T
ENST00000696901.1:c.-283C>T ENSP00000512962.1:n.-283C>T
ENST00000307851.8:c.-283C>T ENSP00000312002.4:n.-283C>T
ENST00000524219.1:c.-293-2304C>T ENSP00000430328.1:n.-293-2304C>T
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