Canonical Allele Identifier: CA2676190094
Gene: HAVCR2 HGNC NCBI

Linked Data

gnomAD v4: 5-157109164-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109164C>G , CM000667.2:g.157109164C>G GRCh38
NC_000005.9:g.156536175C>G , CM000667.1:g.156536175C>G GRCh37
NC_000005.8:g.156468753C>G NCBI36
NG_030444.1:g.5074G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2202G>C ENSP00000430328.2:n.-293-2202G>C
ENST00000696899.1:c.-181G>C ENSP00000512960.1:n.-181G>C
ENST00000696900.1:c.-776G>C ENSP00000512961.1:n.-776G>C
ENST00000696901.1:c.-181G>C ENSP00000512962.1:n.-181G>C
ENST00000307851.8:c.-181G>C ENSP00000312002.4:n.-181G>C
ENST00000524219.1:c.-293-2202G>C ENSP00000430328.1:n.-293-2202G>C
NM_032782.4:c.-181G>C NP_116171.3:n.-181G>C
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