Canonical Allele Identifier: CA1981067986

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473290G= , CM000673.2:g.70473290G=	GRCh38
NC_000011.9:g.70319395G= , CM000673.1:g.70319395G=	GRCh37
NC_000011.8:g.69997043G=	NCBI36
NG_042866.1:g.656507C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3362C=	ENSP00000345193.7:p.Pro1121=
ENST00000412252.6:c.907C=	ENSP00000414876.2:n.907C=
ENST00000601538.6:c.5129C= MANE Select	ENSP00000469689.2:p.Pro1710=
ENST00000654939.1:c.2638C=
ENST00000656230.1:c.3992C=	ENSP00000499561.1:p.Pro1331=
ENST00000659264.1:c.3419C=	ENSP00000499270.1:p.Pro1140=
ENST00000338508.8:c.3365C=	ENSP00000345193.6:p.Pro1122=
ENST00000357171.7:c.*133C=	ENSP00000349694.4:n.*133C=
ENST00000409161.5:c.3341C=	ENSP00000386491.1:p.Pro1114=
ENST00000412252.5:c.905C=
ENST00000423696.6:c.3992C=	ENSP00000394536.2:p.Pro1331=
ENST00000424924.5:c.2966C=	ENSP00000402944.1:p.Pro989=
ENST00000449833.6:c.3365C=	ENSP00000399423.3:p.Pro1122=
ENST00000601538.5:c.5129C=	ENSP00000469689.2:p.Pro1710=
ENST00000606715.3:n.1881C=
NM_012309.4:c.5129C=	NP_036441.2:p.Pro1710=
NM_133266.4:c.3365C=	NP_573573.2:p.Pro1122=
NR_110766.1:n.983C=
XM_005277930.2:c.5129C=	XP_005277987.1:p.Pro1710=
XM_005277932.2:c.3992C=	XP_005277989.1:p.Pro1331=
XM_006718478.2:c.5099C=	XP_006718541.1:p.Pro1700=
XM_011544854.1:c.5141C=	XP_011543156.1:p.Pro1714=
XM_011544855.1:c.5120C=	XP_011543157.1:p.Pro1707=
XM_011544856.1:c.5114C=	XP_011543158.1:p.Pro1705=
XM_011544857.1:c.5093C=	XP_011543159.1:p.Pro1698=
XM_011544859.1:c.4004C=	XP_011543161.1:p.Pro1335=
XM_005277932.3:c.3992C=	XP_005277989.1:p.Pro1331=
XM_017017387.1:c.5129C=	XP_016872876.1:p.Pro1710=
XM_017017388.1:c.5129C=	XP_016872877.1:p.Pro1710=
XM_017017389.1:c.5102C=	XP_016872878.1:p.Pro1701=
XM_017017390.1:c.3419C=	XP_016872879.1:p.Pro1140=
NM_133266.5:c.3365C=	NP_573573.2:p.Pro1122=
NR_110766.2:n.984C=
NM_001379226.1:c.3992C=	NP_001366155.1:p.Pro1331=
NM_012309.5:c.5129C= MANE Select	NP_036441.2:p.Pro1710=