Canonical Allele Identifier: CA1594029305
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1757293578
gnomAD v4: 5-157109220-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109220A>G , CM000667.2:g.157109220A>G GRCh38
NC_000005.9:g.156536231A>G , CM000667.1:g.156536231A>G GRCh37
NC_000005.8:g.156468809A>G NCBI36
NG_030444.1:g.5018T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2258T>C ENSP00000430328.2:n.-293-2258T>C
ENST00000696899.1:c.-237T>C ENSP00000512960.1:n.-237T>C
ENST00000696900.1:c.-832T>C ENSP00000512961.1:n.-832T>C
ENST00000696901.1:c.-237T>C ENSP00000512962.1:n.-237T>C
ENST00000307851.8:c.-237T>C ENSP00000312002.4:n.-237T>C
ENST00000524219.1:c.-293-2258T>C ENSP00000430328.1:n.-293-2258T>C
NM_032782.4:c.-237T>C NP_116171.3:n.-237T>C
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