Canonical Allele Identifier: CA634303091

Gene: SLC23A2

Linked Data

• dbSNP Id: rs1366155107
• gnomAD v2: 20-4891795-C-T
• gnomAD v3: 20-4911149-C-T
• gnomAD v4: 20-4911149-C-T
• MyVariant Identifiers: chr20:g.4891795C>T (hg19) ; chr20:g.4911149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4911149C>T , CM000682.2:g.4911149C>T	GRCh38
NC_000020.10:g.4891795C>T , CM000682.1:g.4891795C>T	GRCh37
NC_000020.9:g.4839795C>T	NCBI36
NG_029959.1:g.95351G>A
NG_029959.2:g.104145G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.207+1731G>A MANE Select	ENSP00000344322.1:n.207+1731G>A
ENST00000338244.5:c.207+1731G>A	ENSP00000344322.1:n.207+1731G>A
ENST00000379333.5:c.207+1731G>A	ENSP00000368637.1:n.207+1731G>A
ENST00000468355.5:n.573+1731G>A
NM_005116.5:c.207+1731G>A	NP_005107.4:n.207+1731G>A
NM_203327.1:c.207+1731G>A	NP_976072.1:n.207+1731G>A
XM_011529414.1:c.207+1731G>A	XP_011527716.1:n.207+1731G>A
XM_011529415.1:c.207+1731G>A	XP_011527717.1:n.207+1731G>A
XM_011529416.1:c.207+1731G>A	XP_011527718.1:n.207+1731G>A
XM_011529417.1:c.207+1731G>A	XP_011527719.1:n.207+1731G>A
NM_005116.6:c.207+1731G>A MANE Select	NP_005107.4:n.207+1731G>A
NM_203327.2:c.207+1731G>A	NP_976072.1:n.207+1731G>A