Canonical Allele Identifier: CA1014968407

Gene: SLC23A2

Linked Data

• dbSNP Id: rs1385418140
• gnomAD v3: 20-4911129-G-T
• gnomAD v4: 20-4911129-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4911129G>T , CM000682.2:g.4911129G>T	GRCh38
NC_000020.10:g.4891775G>T , CM000682.1:g.4891775G>T	GRCh37
NC_000020.9:g.4839775G>T	NCBI36
NG_029959.1:g.95371C>A
NG_029959.2:g.104165C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.207+1751C>A MANE Select	ENSP00000344322.1:n.207+1751C>A
ENST00000338244.5:c.207+1751C>A	ENSP00000344322.1:n.207+1751C>A
ENST00000379333.5:c.207+1751C>A	ENSP00000368637.1:n.207+1751C>A
ENST00000468355.5:n.573+1751C>A
NM_005116.5:c.207+1751C>A	NP_005107.4:n.207+1751C>A
NM_203327.1:c.207+1751C>A	NP_976072.1:n.207+1751C>A
XM_011529414.1:c.207+1751C>A	XP_011527716.1:n.207+1751C>A
XM_011529415.1:c.207+1751C>A	XP_011527717.1:n.207+1751C>A
XM_011529416.1:c.207+1751C>A	XP_011527718.1:n.207+1751C>A
XM_011529417.1:c.207+1751C>A	XP_011527719.1:n.207+1751C>A
NM_005116.6:c.207+1751C>A MANE Select	NP_005107.4:n.207+1751C>A
NM_203327.2:c.207+1751C>A	NP_976072.1:n.207+1751C>A