Canonical Allele Identifier: CA1981067923

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473134C= , CM000673.2:g.70473134C=	GRCh38
NC_000011.9:g.70319239C= , CM000673.1:g.70319239C=	GRCh37
NC_000011.8:g.69996887C=	NCBI36
NG_042866.1:g.656663G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3518G=	ENSP00000345193.7:p.Arg1173=
ENST00000412252.6:c.1063G=	ENSP00000414876.2:n.1063G=
ENST00000601538.6:c.5285G= MANE Select	ENSP00000469689.2:p.Arg1762=
ENST00000654939.1:c.2794G=
ENST00000656230.1:c.4148G=	ENSP00000499561.1:p.Arg1383=
ENST00000659264.1:c.3575G=	ENSP00000499270.1:p.Arg1192=
ENST00000338508.8:c.3521G=	ENSP00000345193.6:p.Arg1174=
ENST00000357171.7:c.*289G=	ENSP00000349694.4:n.*289G=
ENST00000409161.5:c.3497G=	ENSP00000386491.1:p.Arg1166=
ENST00000412252.5:c.1061G=
ENST00000423696.6:c.4148G=	ENSP00000394536.2:p.Arg1383=
ENST00000424924.5:c.3122G=	ENSP00000402944.1:p.Arg1041=
ENST00000449833.6:c.3521G=	ENSP00000399423.3:p.Arg1174=
ENST00000601538.5:c.5285G=	ENSP00000469689.2:p.Arg1762=
ENST00000606715.3:n.2037G=
NM_012309.4:c.5285G=	NP_036441.2:p.Arg1762=
NM_133266.4:c.3521G=	NP_573573.2:p.Arg1174=
NR_110766.1:n.1139G=
XM_005277930.2:c.5285G=	XP_005277987.1:p.Arg1762=
XM_005277932.2:c.4148G=	XP_005277989.1:p.Arg1383=
XM_006718478.2:c.5255G=	XP_006718541.1:p.Arg1752=
XM_011544854.1:c.5297G=	XP_011543156.1:p.Arg1766=
XM_011544855.1:c.5276G=	XP_011543157.1:p.Arg1759=
XM_011544856.1:c.5270G=	XP_011543158.1:p.Arg1757=
XM_011544857.1:c.5249G=	XP_011543159.1:p.Arg1750=
XM_011544859.1:c.4160G=	XP_011543161.1:p.Arg1387=
XM_005277932.3:c.4148G=	XP_005277989.1:p.Arg1383=
XM_017017387.1:c.5285G=	XP_016872876.1:p.Arg1762=
XM_017017388.1:c.5285G=	XP_016872877.1:p.Arg1762=
XM_017017389.1:c.5258G=	XP_016872878.1:p.Arg1753=
XM_017017390.1:c.3575G=	XP_016872879.1:p.Arg1192=
NM_133266.5:c.3521G=	NP_573573.2:p.Arg1174=
NR_110766.2:n.1140G=
NM_001379226.1:c.4148G=	NP_001366155.1:p.Arg1383=
NM_012309.5:c.5285G= MANE Select	NP_036441.2:p.Arg1762=