Canonical Allele Identifier: CA475471134

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473133-C-T
• MyVariant Identifiers: chr11:g.70319238C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473133C>T , CM000673.2:g.70473133C>T	GRCh38
NC_000011.9:g.70319238C>T , CM000673.1:g.70319238C>T	GRCh37
NC_000011.8:g.69996886C>T	NCBI36
NG_042866.1:g.656664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3519G>A	ENSP00000345193.7:p.Arg1173=
ENST00000412252.6:c.1064G>A	ENSP00000414876.2:n.1064G>A
ENST00000601538.6:c.5286G>A MANE Select	ENSP00000469689.2:p.Arg1762=
ENST00000654939.1:c.2795G>A
ENST00000656230.1:c.4149G>A	ENSP00000499561.1:p.Arg1383=
ENST00000659264.1:c.3576G>A	ENSP00000499270.1:p.Arg1192=
ENST00000338508.8:c.3522G>A	ENSP00000345193.6:p.Arg1174=
ENST00000357171.7:c.*290G>A	ENSP00000349694.4:n.*290G>A
ENST00000409161.5:c.3498G>A	ENSP00000386491.1:p.Arg1166=
ENST00000412252.5:c.1062G>A
ENST00000423696.6:c.4149G>A	ENSP00000394536.2:p.Arg1383=
ENST00000424924.5:c.3123G>A	ENSP00000402944.1:p.Arg1041=
ENST00000449833.6:c.3522G>A	ENSP00000399423.3:p.Arg1174=
ENST00000601538.5:c.5286G>A	ENSP00000469689.2:p.Arg1762=
ENST00000606715.3:n.2038G>A
NM_012309.4:c.5286G>A	NP_036441.2:p.Arg1762=
NM_133266.4:c.3522G>A	NP_573573.2:p.Arg1174=
NR_110766.1:n.1140G>A
XM_005277930.2:c.5286G>A	XP_005277987.1:p.Arg1762=
XM_005277932.2:c.4149G>A	XP_005277989.1:p.Arg1383=
XM_006718478.2:c.5256G>A	XP_006718541.1:p.Arg1752=
XM_011544854.1:c.5298G>A	XP_011543156.1:p.Arg1766=
XM_011544855.1:c.5277G>A	XP_011543157.1:p.Arg1759=
XM_011544856.1:c.5271G>A	XP_011543158.1:p.Arg1757=
XM_011544857.1:c.5250G>A	XP_011543159.1:p.Arg1750=
XM_011544859.1:c.4161G>A	XP_011543161.1:p.Arg1387=
XM_005277932.3:c.4149G>A	XP_005277989.1:p.Arg1383=
XM_017017387.1:c.5286G>A	XP_016872876.1:p.Arg1762=
XM_017017388.1:c.5286G>A	XP_016872877.1:p.Arg1762=
XM_017017389.1:c.5259G>A	XP_016872878.1:p.Arg1753=
XM_017017390.1:c.3576G>A	XP_016872879.1:p.Arg1192=
NM_133266.5:c.3522G>A	NP_573573.2:p.Arg1174=
NR_110766.2:n.1141G>A
NM_001379226.1:c.4149G>A	NP_001366155.1:p.Arg1383=
NM_012309.5:c.5286G>A MANE Select	NP_036441.2:p.Arg1762=