Canonical Allele Identifier: CA745120454

Gene: SLC23A2

Linked Data

• dbSNP Id: rs1187155670
• gnomAD v3: 20-4911176-G-T
• gnomAD v4: 20-4911176-G-T
• MyVariant Identifiers: chr20:g.4891822G>T (hg19) ; chr20:g.4911176G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4911176G>T , CM000682.2:g.4911176G>T	GRCh38
NC_000020.10:g.4891822G>T , CM000682.1:g.4891822G>T	GRCh37
NC_000020.9:g.4839822G>T	NCBI36
NG_029959.1:g.95324C>A
NG_029959.2:g.104118C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.207+1704C>A MANE Select	ENSP00000344322.1:n.207+1704C>A
ENST00000338244.5:c.207+1704C>A	ENSP00000344322.1:n.207+1704C>A
ENST00000379333.5:c.207+1704C>A	ENSP00000368637.1:n.207+1704C>A
ENST00000468355.5:n.573+1704C>A
NM_005116.5:c.207+1704C>A	NP_005107.4:n.207+1704C>A
NM_203327.1:c.207+1704C>A	NP_976072.1:n.207+1704C>A
XM_011529414.1:c.207+1704C>A	XP_011527716.1:n.207+1704C>A
XM_011529415.1:c.207+1704C>A	XP_011527717.1:n.207+1704C>A
XM_011529416.1:c.207+1704C>A	XP_011527718.1:n.207+1704C>A
XM_011529417.1:c.207+1704C>A	XP_011527719.1:n.207+1704C>A
NM_005116.6:c.207+1704C>A MANE Select	NP_005107.4:n.207+1704C>A
NM_203327.2:c.207+1704C>A	NP_976072.1:n.207+1704C>A