Canonical Allele Identifier: CA311023231

Gene: SLC23A2

Linked Data

• dbSNP Id: rs778102069
• gnomAD v2: 20-4891801-G-A
• gnomAD v3: 20-4911155-G-A
• gnomAD v4: 20-4911155-G-A
• MyVariant Identifiers: chr20:g.4891801G>A (hg19) ; chr20:g.4911155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4911155G>A , CM000682.2:g.4911155G>A	GRCh38
NC_000020.10:g.4891801G>A , CM000682.1:g.4891801G>A	GRCh37
NC_000020.9:g.4839801G>A	NCBI36
NG_029959.1:g.95345C>T
NG_029959.2:g.104139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.207+1725C>T MANE Select	ENSP00000344322.1:n.207+1725C>T
ENST00000338244.5:c.207+1725C>T	ENSP00000344322.1:n.207+1725C>T
ENST00000379333.5:c.207+1725C>T	ENSP00000368637.1:n.207+1725C>T
ENST00000468355.5:n.573+1725C>T
NM_005116.5:c.207+1725C>T	NP_005107.4:n.207+1725C>T
NM_203327.1:c.207+1725C>T	NP_976072.1:n.207+1725C>T
XM_011529414.1:c.207+1725C>T	XP_011527716.1:n.207+1725C>T
XM_011529415.1:c.207+1725C>T	XP_011527717.1:n.207+1725C>T
XM_011529416.1:c.207+1725C>T	XP_011527718.1:n.207+1725C>T
XM_011529417.1:c.207+1725C>T	XP_011527719.1:n.207+1725C>T
NM_005116.6:c.207+1725C>T MANE Select	NP_005107.4:n.207+1725C>T
NM_203327.2:c.207+1725C>T	NP_976072.1:n.207+1725C>T