Canonical Allele Identifier: CA1981067939

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473181C= , CM000673.2:g.70473181C=	GRCh38
NC_000011.9:g.70319286C= , CM000673.1:g.70319286C=	GRCh37
NC_000011.8:g.69996934C=	NCBI36
NG_042866.1:g.656616G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3471G=	ENSP00000345193.7:p.Gln1157=
ENST00000412252.6:c.1016G=	ENSP00000414876.2:n.1016G=
ENST00000601538.6:c.5238G= MANE Select	ENSP00000469689.2:p.Gln1746=
ENST00000654939.1:c.2747G=
ENST00000656230.1:c.4101G=	ENSP00000499561.1:p.Gln1367=
ENST00000659264.1:c.3528G=	ENSP00000499270.1:p.Gln1176=
ENST00000338508.8:c.3474G=	ENSP00000345193.6:p.Gln1158=
ENST00000357171.7:c.*242G=	ENSP00000349694.4:n.*242G=
ENST00000409161.5:c.3450G=	ENSP00000386491.1:p.Gln1150=
ENST00000412252.5:c.1014G=
ENST00000423696.6:c.4101G=	ENSP00000394536.2:p.Gln1367=
ENST00000424924.5:c.3075G=	ENSP00000402944.1:p.Gln1025=
ENST00000449833.6:c.3474G=	ENSP00000399423.3:p.Gln1158=
ENST00000601538.5:c.5238G=	ENSP00000469689.2:p.Gln1746=
ENST00000606715.3:n.1990G=
NM_012309.4:c.5238G=	NP_036441.2:p.Gln1746=
NM_133266.4:c.3474G=	NP_573573.2:p.Gln1158=
NR_110766.1:n.1092G=
XM_005277930.2:c.5238G=	XP_005277987.1:p.Gln1746=
XM_005277932.2:c.4101G=	XP_005277989.1:p.Gln1367=
XM_006718478.2:c.5208G=	XP_006718541.1:p.Gln1736=
XM_011544854.1:c.5250G=	XP_011543156.1:p.Gln1750=
XM_011544855.1:c.5229G=	XP_011543157.1:p.Gln1743=
XM_011544856.1:c.5223G=	XP_011543158.1:p.Gln1741=
XM_011544857.1:c.5202G=	XP_011543159.1:p.Gln1734=
XM_011544859.1:c.4113G=	XP_011543161.1:p.Gln1371=
XM_005277932.3:c.4101G=	XP_005277989.1:p.Gln1367=
XM_017017387.1:c.5238G=	XP_016872876.1:p.Gln1746=
XM_017017388.1:c.5238G=	XP_016872877.1:p.Gln1746=
XM_017017389.1:c.5211G=	XP_016872878.1:p.Gln1737=
XM_017017390.1:c.3528G=	XP_016872879.1:p.Gln1176=
NM_133266.5:c.3474G=	NP_573573.2:p.Gln1158=
NR_110766.2:n.1093G=
NM_001379226.1:c.4101G=	NP_001366155.1:p.Gln1367=
NM_012309.5:c.5238G= MANE Select	NP_036441.2:p.Gln1746=