Canonical Allele Identifier: CA130122053
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs537545553
gnomAD v3: 5-157109487-C-T
gnomAD v4: 5-157109487-C-T
MyVariant Identifiers: chr5:g.156536498C>T (hg19) chr5:g.157109487C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109487C>T , CM000667.2:g.157109487C>T GRCh38
NC_000005.9:g.156536498C>T , CM000667.1:g.156536498C>T GRCh37
NC_000005.8:g.156469076C>T NCBI36
NG_030444.1:g.4751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2525G>A ENSP00000430328.2:n.-293-2525G>A
ENST00000696899.1:c.-264-240G>A ENSP00000512960.1:n.-264-240G>A
ENST00000696901.1:c.-504G>A ENSP00000512962.1:n.-504G>A
ENST00000307851.8:c.-504G>A ENSP00000312002.4:n.-504G>A
ENST00000524219.1:c.-293-2525G>A ENSP00000430328.1:n.-293-2525G>A
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