Canonical Allele Identifier: CA191044716
Gene: SLC24A2 HGNC NCBI
COSMIC:
COSN14976866 (not active)
MyVariant.info:
GRCh38 chr9:g.19579429G>A
GRCh37 chr9:g.19579427G>A
gnomAD v2:
9:19579427 G / A
gnomAD v3:
9:19579429 G / A
gnomAD v4:
chr9-19579429-G-A
Joint Max Group AF 0.46578274 (AFR)
Genomes Max Group AF 0.46578274 (AFR)
dbSNP:
3780215
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.19579429G>A , CM000671.2:g.19579429G>A GRCh38
NC_000009.11:g.19579427G>A , CM000671.1:g.19579427G>A GRCh37
NC_000009.10:g.19569427G>A NCBI36
NG_029734.1:g.212591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286344.4:c.1079-2407C>T ENSP00000286344.3:n.1079-2407C>T
ENST00000341998.7:c.1130-2407C>T MANE Select ENSP00000344801.1:n.1130-2407C>T
ENST00000286344.3:c.1079-2407C>T ENSP00000286344.3:n.1079-2407C>T
ENST00000341998.6:c.1130-2407C>T ENSP00000344801.1:n.1130-2407C>T
NM_001193288.2:c.1079-2407C>T NP_001180217.1:n.1079-2407C>T
NM_020344.3:c.1130-2407C>T NP_065077.1:n.1130-2407C>T
XM_005251425.1:c.1130-2407C>T XP_005251482.1:n.1130-2407C>T
XM_005251426.3:c.1130-2407C>T XP_005251483.1:n.1130-2407C>T
XM_006716750.2:c.1079-2407C>T XP_006716813.1:n.1079-2407C>T
XM_005251425.2:c.1130-2407C>T XP_005251482.1:n.1130-2407C>T
XM_005251426.4:c.1130-2407C>T XP_005251483.1:n.1130-2407C>T
XM_006716750.4:c.1079-2407C>T XP_006716813.1:n.1079-2407C>T
XM_017014592.1:c.1130-2407C>T XP_016870081.1:n.1130-2407C>T
XM_017014593.1:c.1079-2407C>T XP_016870082.1:n.1079-2407C>T
NM_001193288.3:c.1079-2407C>T NP_001180217.1:n.1079-2407C>T
NM_001375850.1:c.1130-2407C>T NP_001362779.1:n.1130-2407C>T
NM_001375851.1:c.1079-2407C>T NP_001362780.1:n.1079-2407C>T
NM_020344.4:c.1130-2407C>T MANE Select NP_065077.1:n.1130-2407C>T
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