Canonical Allele Identifier: CA745044420
Gene: SLC23A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4884300C>T , CM000682.2:g.4884300C>T GRCh38
NC_000020.10:g.4864946C>T , CM000682.1:g.4864946C>T GRCh37
NC_000020.9:g.4812946C>T NCBI36
NG_029959.1:g.122200G>A
NG_029959.2:g.130994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.642+453G>A MANE Select ENSP00000344322.1:n.642+453G>A
ENST00000338244.5:c.642+453G>A ENSP00000344322.1:n.642+453G>A
ENST00000379333.5:c.642+453G>A ENSP00000368637.1:n.642+453G>A
ENST00000423430.1:c.94-9604G>A
ENST00000468355.5:n.1008+453G>A
ENST00000496331.1:n.242+453G>A
NM_005116.5:c.642+453G>A NP_005107.4:n.642+453G>A
NM_203327.1:c.642+453G>A NP_976072.1:n.642+453G>A
XM_005260904.2:c.177+453G>A XP_005260961.1:n.177+453G>A
XM_011529414.1:c.642+453G>A XP_011527716.1:n.642+453G>A
XM_011529415.1:c.642+453G>A XP_011527717.1:n.642+453G>A
XM_011529416.1:c.642+453G>A XP_011527718.1:n.642+453G>A
XM_011529417.1:c.642+453G>A XP_011527719.1:n.642+453G>A
NM_005116.6:c.642+453G>A MANE Select NP_005107.4:n.642+453G>A
NM_203327.2:c.642+453G>A NP_976072.1:n.642+453G>A