Canonical Allele Identifier: CA14748418

Gene: SLC23A2

Linked Data

• dbSNP Id: rs13037458
• gnomAD v2: 20-4951215-A-C
• gnomAD v3: 20-4970569-A-C
• gnomAD v4: 20-4970569-A-C
• MyVariant Identifiers: chr20:g.4951215A>C (hg19) ; chr20:g.4970569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4970569A>C , CM000682.2:g.4970569A>C	GRCh38
NC_000020.10:g.4951215A>C , CM000682.1:g.4951215A>C	GRCh37
NC_000020.9:g.4899215A>C	NCBI36
NG_029959.1:g.35931T>G
NG_029959.2:g.44725T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.-155+224T>G MANE Select	ENSP00000344322.1:n.-155+224T>G
ENST00000338244.5:c.-155+224T>G	ENSP00000344322.1:n.-155+224T>G
ENST00000379333.5:c.-155+224T>G	ENSP00000368637.1:n.-155+224T>G
ENST00000468355.5:n.212+224T>G
NM_005116.5:c.-155+224T>G	NP_005107.4:n.-155+224T>G
NM_203327.1:c.-155+224T>G	NP_976072.1:n.-155+224T>G
XM_011529414.1:c.-155+224T>G	XP_011527716.1:n.-155+224T>G
XM_011529417.1:c.-155+30837T>G	XP_011527719.1:n.-155+30837T>G
NM_005116.6:c.-155+224T>G MANE Select	NP_005107.4:n.-155+224T>G
NM_203327.2:c.-155+224T>G	NP_976072.1:n.-155+224T>G