Canonical Allele Identifier: CA14804199
Gene: SLC23A2 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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