Canonical Allele Identifier: CA634307585

Gene: SLC23A2

Linked Data

• gnomAD v2: 20-4957616-C-A
• MyVariant Identifiers: chr20:g.4957616C>A (hg19) ; chr20:g.4976970C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4976970C>A , CM000682.2:g.4976970C>A	GRCh38
NC_000020.10:g.4957616C>A , CM000682.1:g.4957616C>A	GRCh37
NC_000020.9:g.4905616C>A	NCBI36
NG_029959.1:g.29530G>T
NG_029959.2:g.38324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338244.6:c.-281-6051G>T MANE Select	ENSP00000344322.1:n.-281-6051G>T
ENST00000338244.5:c.-281-6051G>T	ENSP00000344322.1:n.-281-6051G>T
ENST00000379333.5:c.-281-6051G>T	ENSP00000368637.1:n.-281-6051G>T
ENST00000468355.5:n.90-6055G>T
NM_005116.5:c.-281-6051G>T	NP_005107.4:n.-281-6051G>T
NM_203327.1:c.-281-6051G>T	NP_976072.1:n.-281-6051G>T
XM_011529414.1:c.-277-6055G>T	XP_011527716.1:n.-277-6055G>T
XM_011529417.1:c.-155+24436G>T	XP_011527719.1:n.-155+24436G>T
NM_005116.6:c.-281-6051G>T MANE Select	NP_005107.4:n.-281-6051G>T
NM_203327.2:c.-281-6051G>T	NP_976072.1:n.-281-6051G>T