Canonical Allele Identifier: CA2676190128
Gene: HAVCR2 HGNC NCBI

Linked Data

gnomAD v4: 5-157109209-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109209C>A , CM000667.2:g.157109209C>A GRCh38
NC_000005.9:g.156536220C>A , CM000667.1:g.156536220C>A GRCh37
NC_000005.8:g.156468798C>A NCBI36
NG_030444.1:g.5029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2247G>T ENSP00000430328.2:n.-293-2247G>T
ENST00000696899.1:c.-226G>T ENSP00000512960.1:n.-226G>T
ENST00000696900.1:c.-821G>T ENSP00000512961.1:n.-821G>T
ENST00000696901.1:c.-226G>T ENSP00000512962.1:n.-226G>T
ENST00000307851.8:c.-226G>T ENSP00000312002.4:n.-226G>T
ENST00000524219.1:c.-293-2247G>T ENSP00000430328.1:n.-293-2247G>T
NM_032782.4:c.-226G>T NP_116171.3:n.-226G>T
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