Canonical Allele Identifier: CA10643862

Gene: SLC6A2

Linked Data

• ClinVar Variation Id: 319821
• ClinVar RCV Id: RCV000290320
• dbSNP Id: rs72297759
• gnomAD v2: 16-55736659-C-CA
• gnomAD v3: 16-55702747-C-CA
• gnomAD v4: 16-55702747-C-CA
• COSMIC: COSN20112898 ; COSN20112899 ; COSN20112900 ; COSN20112901 ; COSN20112902
• MyVariant Identifiers: chr16:g.55736673dupA (hg19) ; chr16:g.55736659_55736660insA (hg19) ; chr16:g.55702761dupA (hg38) ; chr16:g.55702747_55702748insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55702761dup , CM000678.2:g.55702761dup	GRCh38
NC_000016.9:g.55736673dup , CM000678.1:g.55736673dup	GRCh37
NC_000016.8:g.54294174dup	NCBI36
NG_016969.1:g.52132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1830+827dup	ENSP00000219833.8:n.1830+827dup
ENST00000568943.6:c.*415dup MANE Select	ENSP00000457473.1:n.*415dup
ENST00000574918.2:c.*415dup	ENSP00000460214.2:n.*415dup
ENST00000682050.1:c.*968dup	ENSP00000508367.1:n.*968dup
ENST00000219833.12:c.1830+827dup	ENSP00000219833.8:n.1830+827dup
ENST00000379906.6:c.*415dup	ENSP00000369237.2:n.*415dup
ENST00000414754.7:c.*415dup	ENSP00000394956.3:n.*415dup
ENST00000561820.5:c.1759-2455dup	ENSP00000454439.1:n.1759-2455dup
ENST00000567238.1:c.*415dup	ENSP00000457375.1:n.*415dup
ENST00000574918.1:c.105+827dup
NM_001043.3:c.*415dup	NP_001034.1:n.*415dup
NM_001172501.1:c.*415dup	NP_001165972.1:n.*415dup
NM_001172502.1:c.*415dup	NP_001165973.1:n.*415dup
NM_001172504.1:c.1830+827dup	NP_001165975.1:n.1830+827dup
XM_006721263.2:c.1830+827dup	XP_006721326.1:n.1830+827dup
XM_011523295.1:c.1830+827dup	XP_011521597.1:n.1830+827dup
XM_011523296.1:c.1695+827dup	XP_011521598.1:n.1695+827dup
XM_011523297.1:c.*415dup	XP_011521599.1:n.*415dup
XM_011523299.1:c.*415dup	XP_011521601.1:n.*415dup
XM_011523300.1:c.*415dup	XP_011521602.1:n.*415dup
XM_011523295.2:c.1830+827dup	XP_011521597.1:n.1830+827dup
XM_011523296.2:c.1695+827dup	XP_011521598.1:n.1695+827dup
XM_011523297.3:c.*415dup	XP_011521599.1:n.*415dup
XM_011523299.2:c.*415dup	XP_011521601.1:n.*415dup
XM_011523300.2:c.*415dup	XP_011521602.1:n.*415dup
XR_933403.3:n.2461dup
NM_001172501.2:c.*415dup	NP_001165972.1:n.*415dup
NM_001172501.3:c.*415dup MANE Select	NP_001165972.1:n.*415dup