Canonical Allele Identifier: CA1981067915

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473114G= , CM000673.2:g.70473114G=	GRCh38
NC_000011.9:g.70319219G= , CM000673.1:g.70319219G=	GRCh37
NC_000011.8:g.69996867G=	NCBI36
NG_042866.1:g.656683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3538C=	ENSP00000345193.7:p.Leu1180=
ENST00000412252.6:c.1083C=	ENSP00000414876.2:n.1083C=
ENST00000601538.6:c.5305C= MANE Select	ENSP00000469689.2:p.Leu1769=
ENST00000654939.1:c.2814C=
ENST00000656230.1:c.4168C=	ENSP00000499561.1:p.Leu1390=
ENST00000659264.1:c.3595C=	ENSP00000499270.1:p.Leu1199=
ENST00000338508.8:c.3541C=	ENSP00000345193.6:p.Leu1181=
ENST00000357171.7:c.*309C=	ENSP00000349694.4:n.*309C=
ENST00000409161.5:c.3517C=	ENSP00000386491.1:p.Leu1173=
ENST00000412252.5:c.1081C=
ENST00000423696.6:c.4168C=	ENSP00000394536.2:p.Leu1390=
ENST00000424924.5:c.3142C=	ENSP00000402944.1:p.Leu1048=
ENST00000449833.6:c.3541C=	ENSP00000399423.3:p.Leu1181=
ENST00000601538.5:c.5305C=	ENSP00000469689.2:p.Leu1769=
ENST00000606715.3:n.2057C=
NM_012309.4:c.5305C=	NP_036441.2:p.Leu1769=
NM_133266.4:c.3541C=	NP_573573.2:p.Leu1181=
NR_110766.1:n.1159C=
XM_005277930.2:c.5305C=	XP_005277987.1:p.Leu1769=
XM_005277932.2:c.4168C=	XP_005277989.1:p.Leu1390=
XM_006718478.2:c.5275C=	XP_006718541.1:p.Leu1759=
XM_011544854.1:c.5317C=	XP_011543156.1:p.Leu1773=
XM_011544855.1:c.5296C=	XP_011543157.1:p.Leu1766=
XM_011544856.1:c.5290C=	XP_011543158.1:p.Leu1764=
XM_011544857.1:c.5269C=	XP_011543159.1:p.Leu1757=
XM_011544859.1:c.4180C=	XP_011543161.1:p.Leu1394=
XM_005277932.3:c.4168C=	XP_005277989.1:p.Leu1390=
XM_017017387.1:c.5305C=	XP_016872876.1:p.Leu1769=
XM_017017388.1:c.5305C=	XP_016872877.1:p.Leu1769=
XM_017017389.1:c.5278C=	XP_016872878.1:p.Leu1760=
XM_017017390.1:c.3595C=	XP_016872879.1:p.Leu1199=
NM_133266.5:c.3541C=	NP_573573.2:p.Leu1181=
NR_110766.2:n.1160C=
NM_001379226.1:c.4168C=	NP_001366155.1:p.Leu1390=
NM_012309.5:c.5305C= MANE Select	NP_036441.2:p.Leu1769=