Canonical Allele Identifier: CA14825753

Gene: SLC23A2

Linked Data

• dbSNP Id: rs78873101
• gnomAD v2: 20-4891718-A-G
• gnomAD v3: 20-4911072-A-G
• gnomAD v4: 20-4911072-A-G
• MyVariant Identifiers: chr20:g.4891718A>G (hg19) ; chr20:g.4911072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4911072A>G , CM000682.2:g.4911072A>G	GRCh38
NC_000020.10:g.4891718A>G , CM000682.1:g.4891718A>G	GRCh37
NC_000020.9:g.4839718A>G	NCBI36
NG_029959.1:g.95428T>C
NG_029959.2:g.104222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.207+1808T>C MANE Select	ENSP00000344322.1:n.207+1808T>C
ENST00000338244.5:c.207+1808T>C	ENSP00000344322.1:n.207+1808T>C
ENST00000379333.5:c.207+1808T>C	ENSP00000368637.1:n.207+1808T>C
ENST00000468355.5:n.573+1808T>C
NM_005116.5:c.207+1808T>C	NP_005107.4:n.207+1808T>C
NM_203327.1:c.207+1808T>C	NP_976072.1:n.207+1808T>C
XM_011529414.1:c.207+1808T>C	XP_011527716.1:n.207+1808T>C
XM_011529415.1:c.207+1808T>C	XP_011527717.1:n.207+1808T>C
XM_011529416.1:c.207+1808T>C	XP_011527718.1:n.207+1808T>C
XM_011529417.1:c.207+1808T>C	XP_011527719.1:n.207+1808T>C
NM_005116.6:c.207+1808T>C MANE Select	NP_005107.4:n.207+1808T>C
NM_203327.2:c.207+1808T>C	NP_976072.1:n.207+1808T>C