Canonical Allele Identifier: CA5004970

Gene: SLC24A2

Linked Data

• ClinVar Variation Id: 445347
• ClinVar RCV Id: RCV000514875 ; RCV001258266
• dbSNP Id: rs61745273
• ExAC: 9:19516335 T / C
• gnomAD v2: 9-19516335-T-C
• gnomAD v3: 9-19516337-T-C
• gnomAD v4: 9-19516337-T-C
• MyVariant Identifiers: chr9:g.19516335T>C (hg19) ; chr9:g.19516337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.19516337T>C , CM000671.2:g.19516337T>C	GRCh38
NC_000009.11:g.19516335T>C , CM000671.1:g.19516335T>C	GRCh37
NC_000009.10:g.19506335T>C	NCBI36
NG_029734.1:g.275683A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286344.4:c.1751A>G	ENSP00000286344.3:p.Asn584Ser
ENST00000341998.7:c.1802A>G MANE Select	ENSP00000344801.1:p.Asn601Ser
ENST00000286344.3:c.1751A>G	ENSP00000286344.3:p.Asn584Ser
ENST00000341998.6:c.1802A>G	ENSP00000344801.1:p.Asn601Ser
NM_001193288.2:c.1751A>G	NP_001180217.1:p.Asn584Ser
NM_020344.3:c.1802A>G	NP_065077.1:p.Asn601Ser
XM_005251425.1:c.1802A>G	XP_005251482.1:p.Asn601Ser
XM_005251426.3:c.1802A>G	XP_005251483.1:p.Asn601Ser
XM_006716750.2:c.1751A>G	XP_006716813.1:p.Asn584Ser
XR_929510.1:n.435+28775T>C
XR_929511.1:n.195+28775T>C
XR_929512.1:n.107+28775T>C
XM_005251425.2:c.1802A>G	XP_005251482.1:p.Asn601Ser
XM_005251426.4:c.1802A>G	XP_005251483.1:p.Asn601Ser
XM_006716750.4:c.1751A>G	XP_006716813.1:p.Asn584Ser
XM_017014592.1:c.1802A>G	XP_016870081.1:p.Asn601Ser
XM_017014593.1:c.1751A>G	XP_016870082.1:p.Asn584Ser
XR_929510.3:n.422+28775T>C
XR_929511.3:n.548+28775T>C
XR_929512.3:n.107+28775T>C
NM_001193288.3:c.1751A>G	NP_001180217.1:p.Asn584Ser
NM_001375850.1:c.1802A>G	NP_001362779.1:p.Asn601Ser
NM_001375851.1:c.1751A>G	NP_001362780.1:p.Asn584Ser
NM_020344.4:c.1802A>G MANE Select	NP_065077.1:p.Asn601Ser