Canonical Allele Identifier: CA2580621390
Gene: SLC23A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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