Canonical Allele Identifier: CA4084546
Community Standard Title: NM_003058.4(SLC22A2):c.808T>G (p.Ser270Ala)
Gene: SLC22A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160249250A>C , CM000668.2:g.160249250A>C GRCh38
NC_000006.11:g.160670282A>C , CM000668.1:g.160670282A>C GRCh37
NC_000006.10:g.160590272A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003058.4:c.808T>G MANE Select NP_003049.2:p.Ser270Ala
ENST00000366953.8:c.808T>G MANE Select ENSP00000355920.3:p.Ser270Ala
NM_003058.3:c.808T>G NP_003049.2:p.Ser270Ala
ENST00000366952.1:c.745T>G ENSP00000355919.1:p.Ser249Ala
ENST00000366953.7:c.808T>G ENSP00000355920.3:p.Ser270Ala
ENST00000491092.1:n.705T>G
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