Canonical Allele Identifier: CA1981315265

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71085139G= , CM000673.2:g.71085139G=	GRCh38
NG_042866.1:g.144658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.912+7283C= MANE Select	ENSP00000469689.2:n.912+7283C=
ENST00000458632.2:c.320+7283C=
ENST00000601538.5:c.912+7283C=	ENSP00000469689.2:n.912+7283C=
ENST00000608988.5:c.*475+7283C=	ENSP00000476264.2:n.*475+7283C=
ENST00000618363.4:c.56+7283C=
NM_012309.4:c.912+7283C=	NP_036441.2:n.912+7283C=
XM_005277930.2:c.912+7283C=	XP_005277987.1:n.912+7283C=
XM_006718478.2:c.912+7283C=	XP_006718541.1:n.912+7283C=
XM_011544854.1:c.912+7283C=	XP_011543156.1:n.912+7283C=
XM_011544855.1:c.912+7283C=	XP_011543157.1:n.912+7283C=
XM_011544856.1:c.912+7283C=	XP_011543158.1:n.912+7283C=
XM_011544857.1:c.912+7283C=	XP_011543159.1:n.912+7283C=
XM_011544858.1:c.912+7283C=	XP_011543160.1:n.912+7283C=
XM_017017387.1:c.912+7283C=	XP_016872876.1:n.912+7283C=
XM_017017388.1:c.912+7283C=	XP_016872877.1:n.912+7283C=
XM_017017389.1:c.912+7283C=	XP_016872878.1:n.912+7283C=
NM_012309.5:c.912+7283C= MANE Select	NP_036441.2:n.912+7283C=