Canonical Allele Identifier: CA745120391
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1355666248
gnomAD v3: 20-4911015-T-C
gnomAD v4: 20-4911015-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4911015T>C , CM000682.2:g.4911015T>C GRCh38
NC_000020.10:g.4891661T>C , CM000682.1:g.4891661T>C GRCh37
NC_000020.9:g.4839661T>C NCBI36
NG_029959.1:g.95485A>G
NG_029959.2:g.104279A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338244.6:c.207+1865A>G MANE Select ENSP00000344322.1:n.207+1865A>G
ENST00000338244.5:c.207+1865A>G ENSP00000344322.1:n.207+1865A>G
ENST00000379333.5:c.207+1865A>G ENSP00000368637.1:n.207+1865A>G
ENST00000468355.5:n.573+1865A>G
NM_005116.5:c.207+1865A>G NP_005107.4:n.207+1865A>G
NM_203327.1:c.207+1865A>G NP_976072.1:n.207+1865A>G
XM_011529414.1:c.207+1865A>G XP_011527716.1:n.207+1865A>G
XM_011529415.1:c.207+1865A>G XP_011527717.1:n.207+1865A>G
XM_011529416.1:c.207+1865A>G XP_011527718.1:n.207+1865A>G
XM_011529417.1:c.207+1865A>G XP_011527719.1:n.207+1865A>G
NM_005116.6:c.207+1865A>G MANE Select NP_005107.4:n.207+1865A>G
NM_203327.2:c.207+1865A>G NP_976072.1:n.207+1865A>G