Canonical Allele Identifier: CA1981068055

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473433C= , CM000673.2:g.70473433C=	GRCh38
NC_000011.9:g.70319538C= , CM000673.1:g.70319538C=	GRCh37
NC_000011.8:g.69997186C=	NCBI36
NG_042866.1:g.656364G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3219G=	ENSP00000345193.7:p.Pro1073=
ENST00000412252.6:c.764G=	ENSP00000414876.2:p.Arg255=
ENST00000601538.6:c.4986G= MANE Select	ENSP00000469689.2:p.Pro1662=
ENST00000654939.1:c.2495G=
ENST00000656230.1:c.3849G=	ENSP00000499561.1:p.Pro1283=
ENST00000659264.1:c.3276G=	ENSP00000499270.1:p.Pro1092=
ENST00000338508.8:c.3222G=	ENSP00000345193.6:p.Pro1074=
ENST00000357171.7:c.725G=	ENSP00000349694.4:p.Arg242=
ENST00000409161.5:c.3198G=	ENSP00000386491.1:p.Pro1066=
ENST00000412252.5:c.762G=
ENST00000423696.6:c.3849G=	ENSP00000394536.2:p.Pro1283=
ENST00000424924.5:c.2823G=	ENSP00000402944.1:p.Pro941=
ENST00000449833.6:c.3222G=	ENSP00000399423.3:p.Pro1074=
ENST00000601538.5:c.4986G=	ENSP00000469689.2:p.Pro1662=
ENST00000606715.3:n.1738G=
NM_012309.4:c.4986G=	NP_036441.2:p.Pro1662=
NM_133266.4:c.3222G=	NP_573573.2:p.Pro1074=
NR_110766.1:n.840G=
XM_005277930.2:c.4986G=	XP_005277987.1:p.Pro1662=
XM_005277932.2:c.3849G=	XP_005277989.1:p.Pro1283=
XM_006718478.2:c.4956G=	XP_006718541.1:p.Pro1652=
XM_011544854.1:c.4998G=	XP_011543156.1:p.Pro1666=
XM_011544855.1:c.4977G=	XP_011543157.1:p.Pro1659=
XM_011544856.1:c.4971G=	XP_011543158.1:p.Pro1657=
XM_011544857.1:c.4950G=	XP_011543159.1:p.Pro1650=
XM_011544859.1:c.3861G=	XP_011543161.1:p.Pro1287=
XM_005277932.3:c.3849G=	XP_005277989.1:p.Pro1283=
XM_017017387.1:c.4986G=	XP_016872876.1:p.Pro1662=
XM_017017388.1:c.4986G=	XP_016872877.1:p.Pro1662=
XM_017017389.1:c.4959G=	XP_016872878.1:p.Pro1653=
XM_017017390.1:c.3276G=	XP_016872879.1:p.Pro1092=
NM_133266.5:c.3222G=	NP_573573.2:p.Pro1074=
NR_110766.2:n.841G=
NM_001379226.1:c.3849G=	NP_001366155.1:p.Pro1283=
NM_012309.5:c.4986G= MANE Select	NP_036441.2:p.Pro1662=