Canonical Allele Identifier: CA1981067933

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473168C= , CM000673.2:g.70473168C=	GRCh38
NC_000011.9:g.70319273C= , CM000673.1:g.70319273C=	GRCh37
NC_000011.8:g.69996921C=	NCBI36
NG_042866.1:g.656629G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3484G=	ENSP00000345193.7:p.Asp1162=
ENST00000412252.6:c.1029G=	ENSP00000414876.2:n.1029G=
ENST00000601538.6:c.5251G= MANE Select	ENSP00000469689.2:p.Asp1751=
ENST00000654939.1:c.2760G=
ENST00000656230.1:c.4114G=	ENSP00000499561.1:p.Asp1372=
ENST00000659264.1:c.3541G=	ENSP00000499270.1:p.Asp1181=
ENST00000338508.8:c.3487G=	ENSP00000345193.6:p.Asp1163=
ENST00000357171.7:c.*255G=	ENSP00000349694.4:n.*255G=
ENST00000409161.5:c.3463G=	ENSP00000386491.1:p.Asp1155=
ENST00000412252.5:c.1027G=
ENST00000423696.6:c.4114G=	ENSP00000394536.2:p.Asp1372=
ENST00000424924.5:c.3088G=	ENSP00000402944.1:p.Asp1030=
ENST00000449833.6:c.3487G=	ENSP00000399423.3:p.Asp1163=
ENST00000601538.5:c.5251G=	ENSP00000469689.2:p.Asp1751=
ENST00000606715.3:n.2003G=
NM_012309.4:c.5251G=	NP_036441.2:p.Asp1751=
NM_133266.4:c.3487G=	NP_573573.2:p.Asp1163=
NR_110766.1:n.1105G=
XM_005277930.2:c.5251G=	XP_005277987.1:p.Asp1751=
XM_005277932.2:c.4114G=	XP_005277989.1:p.Asp1372=
XM_006718478.2:c.5221G=	XP_006718541.1:p.Asp1741=
XM_011544854.1:c.5263G=	XP_011543156.1:p.Asp1755=
XM_011544855.1:c.5242G=	XP_011543157.1:p.Asp1748=
XM_011544856.1:c.5236G=	XP_011543158.1:p.Asp1746=
XM_011544857.1:c.5215G=	XP_011543159.1:p.Asp1739=
XM_011544859.1:c.4126G=	XP_011543161.1:p.Asp1376=
XM_005277932.3:c.4114G=	XP_005277989.1:p.Asp1372=
XM_017017387.1:c.5251G=	XP_016872876.1:p.Asp1751=
XM_017017388.1:c.5251G=	XP_016872877.1:p.Asp1751=
XM_017017389.1:c.5224G=	XP_016872878.1:p.Asp1742=
XM_017017390.1:c.3541G=	XP_016872879.1:p.Asp1181=
NM_133266.5:c.3487G=	NP_573573.2:p.Asp1163=
NR_110766.2:n.1106G=
NM_001379226.1:c.4114G=	NP_001366155.1:p.Asp1372=
NM_012309.5:c.5251G= MANE Select	NP_036441.2:p.Asp1751=