Canonical Allele Identifier: CA634307581

Gene: SLC23A2

Linked Data

• dbSNP Id: rs1213878108
• gnomAD v2: 20-4957606-A-G
• gnomAD v3: 20-4976960-A-G
• gnomAD v4: 20-4976960-A-G
• MyVariant Identifiers: chr20:g.4957606A>G (hg19) ; chr20:g.4976960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4976960A>G , CM000682.2:g.4976960A>G	GRCh38
NC_000020.10:g.4957606A>G , CM000682.1:g.4957606A>G	GRCh37
NC_000020.9:g.4905606A>G	NCBI36
NG_029959.1:g.29540T>C
NG_029959.2:g.38334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338244.6:c.-281-6041T>C MANE Select	ENSP00000344322.1:n.-281-6041T>C
ENST00000338244.5:c.-281-6041T>C	ENSP00000344322.1:n.-281-6041T>C
ENST00000379333.5:c.-281-6041T>C	ENSP00000368637.1:n.-281-6041T>C
ENST00000468355.5:n.90-6045T>C
NM_005116.5:c.-281-6041T>C	NP_005107.4:n.-281-6041T>C
NM_203327.1:c.-281-6041T>C	NP_976072.1:n.-281-6041T>C
XM_011529414.1:c.-277-6045T>C	XP_011527716.1:n.-277-6045T>C
XM_011529417.1:c.-155+24446T>C	XP_011527719.1:n.-155+24446T>C
NM_005116.6:c.-281-6041T>C MANE Select	NP_005107.4:n.-281-6041T>C
NM_203327.2:c.-281-6041T>C	NP_976072.1:n.-281-6041T>C