Canonical Allele Identifier: CA1981068008

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473336G= , CM000673.2:g.70473336G=	GRCh38
NC_000011.9:g.70319441G= , CM000673.1:g.70319441G=	GRCh37
NC_000011.8:g.69997089G=	NCBI36
NG_042866.1:g.656461C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3316C=	ENSP00000345193.7:p.Pro1106=
ENST00000412252.6:c.861C=	ENSP00000414876.2:n.861C=
ENST00000601538.6:c.5083C= MANE Select	ENSP00000469689.2:p.Pro1695=
ENST00000654939.1:c.2592C=
ENST00000656230.1:c.3946C=	ENSP00000499561.1:p.Pro1316=
ENST00000659264.1:c.3373C=	ENSP00000499270.1:p.Pro1125=
ENST00000338508.8:c.3319C=	ENSP00000345193.6:p.Pro1107=
ENST00000357171.7:c.*87C=	ENSP00000349694.4:n.*87C=
ENST00000409161.5:c.3295C=	ENSP00000386491.1:p.Pro1099=
ENST00000412252.5:c.859C=
ENST00000423696.6:c.3946C=	ENSP00000394536.2:p.Pro1316=
ENST00000424924.5:c.2920C=	ENSP00000402944.1:p.Pro974=
ENST00000449833.6:c.3319C=	ENSP00000399423.3:p.Pro1107=
ENST00000601538.5:c.5083C=	ENSP00000469689.2:p.Pro1695=
ENST00000606715.3:n.1835C=
NM_012309.4:c.5083C=	NP_036441.2:p.Pro1695=
NM_133266.4:c.3319C=	NP_573573.2:p.Pro1107=
NR_110766.1:n.937C=
XM_005277930.2:c.5083C=	XP_005277987.1:p.Pro1695=
XM_005277932.2:c.3946C=	XP_005277989.1:p.Pro1316=
XM_006718478.2:c.5053C=	XP_006718541.1:p.Pro1685=
XM_011544854.1:c.5095C=	XP_011543156.1:p.Pro1699=
XM_011544855.1:c.5074C=	XP_011543157.1:p.Pro1692=
XM_011544856.1:c.5068C=	XP_011543158.1:p.Pro1690=
XM_011544857.1:c.5047C=	XP_011543159.1:p.Pro1683=
XM_011544859.1:c.3958C=	XP_011543161.1:p.Pro1320=
XM_005277932.3:c.3946C=	XP_005277989.1:p.Pro1316=
XM_017017387.1:c.5083C=	XP_016872876.1:p.Pro1695=
XM_017017388.1:c.5083C=	XP_016872877.1:p.Pro1695=
XM_017017389.1:c.5056C=	XP_016872878.1:p.Pro1686=
XM_017017390.1:c.3373C=	XP_016872879.1:p.Pro1125=
NM_133266.5:c.3319C=	NP_573573.2:p.Pro1107=
NR_110766.2:n.938C=
NM_001379226.1:c.3946C=	NP_001366155.1:p.Pro1316=
NM_012309.5:c.5083C= MANE Select	NP_036441.2:p.Pro1695=