Canonical Allele Identifier: CA14748397
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs6133175
gnomAD v2: 20-4891759-A-G
gnomAD v3: 20-4911113-A-G
gnomAD v4: 20-4911113-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4911113A>G , CM000682.2:g.4911113A>G GRCh38
NC_000020.10:g.4891759A>G , CM000682.1:g.4891759A>G GRCh37
NC_000020.9:g.4839759A>G NCBI36
NG_029959.1:g.95387T>C
NG_029959.2:g.104181T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338244.6:c.207+1767T>C MANE Select ENSP00000344322.1:n.207+1767T>C
ENST00000338244.5:c.207+1767T>C ENSP00000344322.1:n.207+1767T>C
ENST00000379333.5:c.207+1767T>C ENSP00000368637.1:n.207+1767T>C
ENST00000468355.5:n.573+1767T>C
NM_005116.5:c.207+1767T>C NP_005107.4:n.207+1767T>C
NM_203327.1:c.207+1767T>C NP_976072.1:n.207+1767T>C
XM_011529414.1:c.207+1767T>C XP_011527716.1:n.207+1767T>C
XM_011529415.1:c.207+1767T>C XP_011527717.1:n.207+1767T>C
XM_011529416.1:c.207+1767T>C XP_011527718.1:n.207+1767T>C
XM_011529417.1:c.207+1767T>C XP_011527719.1:n.207+1767T>C
NM_005116.6:c.207+1767T>C MANE Select NP_005107.4:n.207+1767T>C
NM_203327.2:c.207+1767T>C NP_976072.1:n.207+1767T>C