Canonical Allele Identifier: CA1981067988

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473295T= , CM000673.2:g.70473295T=	GRCh38
NC_000011.9:g.70319400T= , CM000673.1:g.70319400T=	GRCh37
NC_000011.8:g.69997048T=	NCBI36
NG_042866.1:g.656502A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3357A=	ENSP00000345193.7:p.Pro1119=
ENST00000412252.6:c.902A=	ENSP00000414876.2:n.902A=
ENST00000601538.6:c.5124A= MANE Select	ENSP00000469689.2:p.Pro1708=
ENST00000654939.1:c.2633A=
ENST00000656230.1:c.3987A=	ENSP00000499561.1:p.Pro1329=
ENST00000659264.1:c.3414A=	ENSP00000499270.1:p.Pro1138=
ENST00000338508.8:c.3360A=	ENSP00000345193.6:p.Pro1120=
ENST00000357171.7:c.*128A=	ENSP00000349694.4:n.*128A=
ENST00000409161.5:c.3336A=	ENSP00000386491.1:p.Pro1112=
ENST00000412252.5:c.900A=
ENST00000423696.6:c.3987A=	ENSP00000394536.2:p.Pro1329=
ENST00000424924.5:c.2961A=	ENSP00000402944.1:p.Pro987=
ENST00000449833.6:c.3360A=	ENSP00000399423.3:p.Pro1120=
ENST00000601538.5:c.5124A=	ENSP00000469689.2:p.Pro1708=
ENST00000606715.3:n.1876A=
NM_012309.4:c.5124A=	NP_036441.2:p.Pro1708=
NM_133266.4:c.3360A=	NP_573573.2:p.Pro1120=
NR_110766.1:n.978A=
XM_005277930.2:c.5124A=	XP_005277987.1:p.Pro1708=
XM_005277932.2:c.3987A=	XP_005277989.1:p.Pro1329=
XM_006718478.2:c.5094A=	XP_006718541.1:p.Pro1698=
XM_011544854.1:c.5136A=	XP_011543156.1:p.Pro1712=
XM_011544855.1:c.5115A=	XP_011543157.1:p.Pro1705=
XM_011544856.1:c.5109A=	XP_011543158.1:p.Pro1703=
XM_011544857.1:c.5088A=	XP_011543159.1:p.Pro1696=
XM_011544859.1:c.3999A=	XP_011543161.1:p.Pro1333=
XM_005277932.3:c.3987A=	XP_005277989.1:p.Pro1329=
XM_017017387.1:c.5124A=	XP_016872876.1:p.Pro1708=
XM_017017388.1:c.5124A=	XP_016872877.1:p.Pro1708=
XM_017017389.1:c.5097A=	XP_016872878.1:p.Pro1699=
XM_017017390.1:c.3414A=	XP_016872879.1:p.Pro1138=
NM_133266.5:c.3360A=	NP_573573.2:p.Pro1120=
NR_110766.2:n.979A=
NM_001379226.1:c.3987A=	NP_001366155.1:p.Pro1329=
NM_012309.5:c.5124A= MANE Select	NP_036441.2:p.Pro1708=