Canonical Allele Identifier: CA2676190109
Gene: HAVCR2 HGNC NCBI

Linked Data

gnomAD v4: 5-157109179-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109179C>T , CM000667.2:g.157109179C>T GRCh38
NC_000005.9:g.156536190C>T , CM000667.1:g.156536190C>T GRCh37
NC_000005.8:g.156468768C>T NCBI36
NG_030444.1:g.5059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2217G>A ENSP00000430328.2:n.-293-2217G>A
ENST00000696899.1:c.-196G>A ENSP00000512960.1:n.-196G>A
ENST00000696900.1:c.-791G>A ENSP00000512961.1:n.-791G>A
ENST00000696901.1:c.-196G>A ENSP00000512962.1:n.-196G>A
ENST00000307851.8:c.-196G>A ENSP00000312002.4:n.-196G>A
ENST00000524219.1:c.-293-2217G>A ENSP00000430328.1:n.-293-2217G>A
NM_032782.4:c.-196G>A NP_116171.3:n.-196G>A
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