Canonical Allele Identifier: CA1981067978

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473275G= , CM000673.2:g.70473275G=	GRCh38
NC_000011.9:g.70319380G= , CM000673.1:g.70319380G=	GRCh37
NC_000011.8:g.69997028G=	NCBI36
NG_042866.1:g.656522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3377C=	ENSP00000345193.7:p.Thr1126=
ENST00000412252.6:c.922C=	ENSP00000414876.2:n.922C=
ENST00000601538.6:c.5144C= MANE Select	ENSP00000469689.2:p.Thr1715=
ENST00000654939.1:c.2653C=
ENST00000656230.1:c.4007C=	ENSP00000499561.1:p.Thr1336=
ENST00000659264.1:c.3434C=	ENSP00000499270.1:p.Thr1145=
ENST00000338508.8:c.3380C=	ENSP00000345193.6:p.Thr1127=
ENST00000357171.7:c.*148C=	ENSP00000349694.4:n.*148C=
ENST00000409161.5:c.3356C=	ENSP00000386491.1:p.Thr1119=
ENST00000412252.5:c.920C=
ENST00000423696.6:c.4007C=	ENSP00000394536.2:p.Thr1336=
ENST00000424924.5:c.2981C=	ENSP00000402944.1:p.Thr994=
ENST00000449833.6:c.3380C=	ENSP00000399423.3:p.Thr1127=
ENST00000601538.5:c.5144C=	ENSP00000469689.2:p.Thr1715=
ENST00000606715.3:n.1896C=
NM_012309.4:c.5144C=	NP_036441.2:p.Thr1715=
NM_133266.4:c.3380C=	NP_573573.2:p.Thr1127=
NR_110766.1:n.998C=
XM_005277930.2:c.5144C=	XP_005277987.1:p.Thr1715=
XM_005277932.2:c.4007C=	XP_005277989.1:p.Thr1336=
XM_006718478.2:c.5114C=	XP_006718541.1:p.Thr1705=
XM_011544854.1:c.5156C=	XP_011543156.1:p.Thr1719=
XM_011544855.1:c.5135C=	XP_011543157.1:p.Thr1712=
XM_011544856.1:c.5129C=	XP_011543158.1:p.Thr1710=
XM_011544857.1:c.5108C=	XP_011543159.1:p.Thr1703=
XM_011544859.1:c.4019C=	XP_011543161.1:p.Thr1340=
XM_005277932.3:c.4007C=	XP_005277989.1:p.Thr1336=
XM_017017387.1:c.5144C=	XP_016872876.1:p.Thr1715=
XM_017017388.1:c.5144C=	XP_016872877.1:p.Thr1715=
XM_017017389.1:c.5117C=	XP_016872878.1:p.Thr1706=
XM_017017390.1:c.3434C=	XP_016872879.1:p.Thr1145=
NM_133266.5:c.3380C=	NP_573573.2:p.Thr1127=
NR_110766.2:n.999C=
NM_001379226.1:c.4007C=	NP_001366155.1:p.Thr1336=
NM_012309.5:c.5144C= MANE Select	NP_036441.2:p.Thr1715=