Canonical Allele Identifier: CA1594029301
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1757293517
gnomAD v4: 5-157109206-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109206A>G , CM000667.2:g.157109206A>G GRCh38
NC_000005.9:g.156536217A>G , CM000667.1:g.156536217A>G GRCh37
NC_000005.8:g.156468795A>G NCBI36
NG_030444.1:g.5032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2244T>C ENSP00000430328.2:n.-293-2244T>C
ENST00000696899.1:c.-223T>C ENSP00000512960.1:n.-223T>C
ENST00000696900.1:c.-818T>C ENSP00000512961.1:n.-818T>C
ENST00000696901.1:c.-223T>C ENSP00000512962.1:n.-223T>C
ENST00000307851.8:c.-223T>C ENSP00000312002.4:n.-223T>C
ENST00000524219.1:c.-293-2244T>C ENSP00000430328.1:n.-293-2244T>C
NM_032782.4:c.-223T>C NP_116171.3:n.-223T>C
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