Canonical Allele Identifier: CA6160735

Gene: SHANK2

Linked Data

• dbSNP Id: rs781795841
• ExAC: 11:70319274 C / T
• gnomAD v2: 11-70319274-C-T
• gnomAD v4: 11-70473169-C-T
• MyVariant Identifiers: chr11:g.70319274C>T (hg19) ; chr11:g.70473169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473169C>T , CM000673.2:g.70473169C>T	GRCh38
NC_000011.9:g.70319274C>T , CM000673.1:g.70319274C>T	GRCh37
NC_000011.8:g.69996922C>T	NCBI36
NG_042866.1:g.656628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3483G>A	ENSP00000345193.7:p.Gly1161=
ENST00000412252.6:c.1028G>A	ENSP00000414876.2:n.1028G>A
ENST00000601538.6:c.5250G>A MANE Select	ENSP00000469689.2:p.Gly1750=
ENST00000654939.1:c.2759G>A
ENST00000656230.1:c.4113G>A	ENSP00000499561.1:p.Gly1371=
ENST00000659264.1:c.3540G>A	ENSP00000499270.1:p.Gly1180=
ENST00000338508.8:c.3486G>A	ENSP00000345193.6:p.Gly1162=
ENST00000357171.7:c.*254G>A	ENSP00000349694.4:n.*254G>A
ENST00000409161.5:c.3462G>A	ENSP00000386491.1:p.Gly1154=
ENST00000412252.5:c.1026G>A
ENST00000423696.6:c.4113G>A	ENSP00000394536.2:p.Gly1371=
ENST00000424924.5:c.3087G>A	ENSP00000402944.1:p.Gly1029=
ENST00000449833.6:c.3486G>A	ENSP00000399423.3:p.Gly1162=
ENST00000601538.5:c.5250G>A	ENSP00000469689.2:p.Gly1750=
ENST00000606715.3:n.2002G>A
NM_012309.4:c.5250G>A	NP_036441.2:p.Gly1750=
NM_133266.4:c.3486G>A	NP_573573.2:p.Gly1162=
NR_110766.1:n.1104G>A
XM_005277930.2:c.5250G>A	XP_005277987.1:p.Gly1750=
XM_005277932.2:c.4113G>A	XP_005277989.1:p.Gly1371=
XM_006718478.2:c.5220G>A	XP_006718541.1:p.Gly1740=
XM_011544854.1:c.5262G>A	XP_011543156.1:p.Gly1754=
XM_011544855.1:c.5241G>A	XP_011543157.1:p.Gly1747=
XM_011544856.1:c.5235G>A	XP_011543158.1:p.Gly1745=
XM_011544857.1:c.5214G>A	XP_011543159.1:p.Gly1738=
XM_011544859.1:c.4125G>A	XP_011543161.1:p.Gly1375=
XM_005277932.3:c.4113G>A	XP_005277989.1:p.Gly1371=
XM_017017387.1:c.5250G>A	XP_016872876.1:p.Gly1750=
XM_017017388.1:c.5250G>A	XP_016872877.1:p.Gly1750=
XM_017017389.1:c.5223G>A	XP_016872878.1:p.Gly1741=
XM_017017390.1:c.3540G>A	XP_016872879.1:p.Gly1180=
NM_133266.5:c.3486G>A	NP_573573.2:p.Gly1162=
NR_110766.2:n.1105G>A
NM_001379226.1:c.4113G>A	NP_001366155.1:p.Gly1371=
NM_012309.5:c.5250G>A MANE Select	NP_036441.2:p.Gly1750=