Canonical Allele Identifier: CA622292894

Gene: SLC6A2

Linked Data

• dbSNP Id: rs1484697784
• gnomAD v2: 16-55690067-C-T
• gnomAD v3: 16-55656155-C-T
• gnomAD v4: 16-55656155-C-T
• MyVariant Identifiers: chr16:g.55690067C>T (hg19) ; chr16:g.55656155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656155C>T , CM000678.2:g.55656155C>T	GRCh38
NC_000016.9:g.55690067C>T , CM000678.1:g.55690067C>T	GRCh37
NC_000016.8:g.54247568C>T	NCBI36
NG_016969.1:g.5526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568943.6:c.-66C>T MANE Select	ENSP00000457473.1:n.-66C>T
ENST00000414754.7:c.-66C>T	ENSP00000394956.3:n.-66C>T
ENST00000568529.6:c.-66C>T	ENSP00000456377.2:n.-66C>T
ENST00000568943.5:c.-66C>T	ENSP00000457473.1:n.-66C>T
NM_001172501.1:c.-66C>T	NP_001165972.1:n.-66C>T
XM_011523295.1:c.-66C>T	XP_011521597.1:n.-66C>T
XM_011523296.1:c.-66C>T	XP_011521598.1:n.-66C>T
XM_011523297.1:c.-66C>T	XP_011521599.1:n.-66C>T
XM_011523298.1:c.-66C>T	XP_011521600.1:n.-66C>T
XR_933403.1:n.552C>T
XM_011523295.2:c.-66C>T	XP_011521597.1:n.-66C>T
XM_011523296.2:c.-66C>T	XP_011521598.1:n.-66C>T
XM_011523297.3:c.-66C>T	XP_011521599.1:n.-66C>T
XM_011523298.2:c.-66C>T	XP_011521600.1:n.-66C>T
XR_933403.3:n.228C>T
NM_001172501.2:c.-66C>T	NP_001165972.1:n.-66C>T
NM_001172501.3:c.-66C>T MANE Select	NP_001165972.1:n.-66C>T