Canonical Allele Identifier: CA281420514

Gene: SLC6A2

Linked Data

• dbSNP Id: rs537612275
• gnomAD v2: 16-55731540-TCAGGAGA-T
• gnomAD v3: 16-55697628-TCAGGAGA-T
• gnomAD v4: 16-55697628-TCAGGAGA-T
• MyVariant Identifiers: chr16:g.55731541_55731547del (hg19) ; chr16:g.55697629_55697635del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55697633_55697639del , CM000678.2:g.55697633_55697639del	GRCh38
NC_000016.9:g.55731545_55731551del , CM000678.1:g.55731545_55731551del	GRCh37
NC_000016.8:g.54289046_54289052del	NCBI36
NG_016969.1:g.47004_47010del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.1261-264_1261-258del	ENSP00000219833.8:n.1261-264_1261-258del
ENST00000568943.6:c.1261-264_1261-258del MANE Select	ENSP00000457473.1:n.1261-264_1261-258del
ENST00000574918.2:c.1126-264_1126-258del	ENSP00000460214.2:n.1126-264_1126-258del
ENST00000682050.1:c.1013-264_1013-258del	ENSP00000508367.1:n.1013-264_1013-258del
ENST00000219833.12:c.1261-264_1261-258del	ENSP00000219833.8:n.1261-264_1261-258del
ENST00000379906.6:c.1261-264_1261-258del	ENSP00000369237.2:n.1261-264_1261-258del
ENST00000414754.7:c.1261-264_1261-258del	ENSP00000394956.3:n.1261-264_1261-258del
ENST00000561820.5:c.1261-264_1261-258del	ENSP00000454439.1:n.1261-264_1261-258del
ENST00000566163.5:c.1126-264_1126-258del	ENSP00000456210.1:n.1126-264_1126-258del
ENST00000567238.1:c.946-264_946-258del	ENSP00000457375.1:n.946-264_946-258del
ENST00000568943.5:c.1261-264_1261-258del	ENSP00000457473.1:n.1261-264_1261-258del
NM_001043.3:c.1261-264_1261-258del	NP_001034.1:n.1261-264_1261-258del
NM_001172501.1:c.1261-264_1261-258del	NP_001165972.1:n.1261-264_1261-258del
NM_001172502.1:c.946-264_946-258del	NP_001165973.1:n.946-264_946-258del
NM_001172504.1:c.1261-264_1261-258del	NP_001165975.1:n.1261-264_1261-258del
XM_006721263.2:c.1261-264_1261-258del	XP_006721326.1:n.1261-264_1261-258del
XM_011523295.1:c.1261-264_1261-258del	XP_011521597.1:n.1261-264_1261-258del
XM_011523296.1:c.1126-264_1126-258del	XP_011521598.1:n.1126-264_1126-258del
XM_011523297.1:c.1126-264_1126-258del	XP_011521599.1:n.1126-264_1126-258del
XM_011523298.1:c.1148-264_1148-258del	XP_011521600.1:n.1148-264_1148-258del
XM_011523299.1:c.538-264_538-258del	XP_011521601.1:n.538-264_538-258del
XM_011523300.1:c.538-264_538-258del	XP_011521602.1:n.538-264_538-258del
XR_933403.1:n.1878-264_1878-258del
XM_011523295.2:c.1261-264_1261-258del	XP_011521597.1:n.1261-264_1261-258del
XM_011523296.2:c.1126-264_1126-258del	XP_011521598.1:n.1126-264_1126-258del
XM_011523297.3:c.1126-264_1126-258del	XP_011521599.1:n.1126-264_1126-258del
XM_011523298.2:c.1148-264_1148-258del	XP_011521600.1:n.1148-264_1148-258del
XM_011523299.2:c.538-264_538-258del	XP_011521601.1:n.538-264_538-258del
XM_011523300.2:c.538-264_538-258del	XP_011521602.1:n.538-264_538-258del
XR_933403.3:n.1554-264_1554-258del
NM_001172501.2:c.1261-264_1261-258del	NP_001165972.1:n.1261-264_1261-258del
NM_001172501.3:c.1261-264_1261-258del MANE Select	NP_001165972.1:n.1261-264_1261-258del