Canonical Allele Identifier: CA745185408

Gene: SLC23A2

Linked Data

• dbSNP Id: rs1305244617
• gnomAD v3: 20-4977003-C-T
• gnomAD v4: 20-4977003-C-T
• MyVariant Identifiers: chr20:g.4957649C>T (hg19) ; chr20:g.4977003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4977003C>T , CM000682.2:g.4977003C>T	GRCh38
NC_000020.10:g.4957649C>T , CM000682.1:g.4957649C>T	GRCh37
NC_000020.9:g.4905649C>T	NCBI36
NG_029959.1:g.29497G>A
NG_029959.2:g.38291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338244.6:c.-281-6084G>A MANE Select	ENSP00000344322.1:n.-281-6084G>A
ENST00000338244.5:c.-281-6084G>A	ENSP00000344322.1:n.-281-6084G>A
ENST00000379333.5:c.-281-6084G>A	ENSP00000368637.1:n.-281-6084G>A
ENST00000468355.5:n.90-6088G>A
NM_005116.5:c.-281-6084G>A	NP_005107.4:n.-281-6084G>A
NM_203327.1:c.-281-6084G>A	NP_976072.1:n.-281-6084G>A
XM_011529414.1:c.-277-6088G>A	XP_011527716.1:n.-277-6088G>A
XM_011529417.1:c.-155+24403G>A	XP_011527719.1:n.-155+24403G>A
NM_005116.6:c.-281-6084G>A MANE Select	NP_005107.4:n.-281-6084G>A
NM_203327.2:c.-281-6084G>A	NP_976072.1:n.-281-6084G>A