Canonical Allele Identifier: CA1977987437
Gene: SLC3A2 HGNC NCBI

Linked Data

dbSNP Id: rs910252580
gnomAD v4: 11-62856021-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62856021G>T , CM000673.2:g.62856021G>T GRCh38
NC_000011.9:g.62623493G>T , CM000673.1:g.62623493G>T GRCh37
NC_000011.8:g.62380069G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000680002.1:c.-249G>T ENSP00000506366.1:n.-249G>T
ENST00000680729.1:c.-249G>T ENSP00000505639.1:n.-249G>T
NM_001012662.2:c.-249G>T NP_001012680.1:n.-249G>T
NM_001012664.2:c.-249G>T NP_001012682.1:n.-249G>T
NM_002394.5:c.-249G>T NP_002385.3:n.-249G>T
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