Canonical Allele Identifier: CA1981074268

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486013C= , CM000673.2:g.70486013C=	GRCh38
NC_000011.9:g.70332118C= , CM000673.1:g.70332118C=	GRCh37
NC_000011.8:g.70009766C=	NCBI36
NG_042866.1:g.643784G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2513G=	ENSP00000345193.7:p.Arg838=
ENST00000412252.6:c.757+4290G=	ENSP00000414876.2:n.757+4290G=
ENST00000601538.6:c.4280G= MANE Select	ENSP00000469689.2:p.Arg1427=
ENST00000654939.1:c.1708G=
ENST00000656230.1:c.3143G=	ENSP00000499561.1:p.Arg1048=
ENST00000659264.1:c.2570G=	ENSP00000499270.1:p.Arg857=
ENST00000338508.8:c.2516G=	ENSP00000345193.6:p.Arg839=
ENST00000357171.7:c.718+4290G=	ENSP00000349694.4:n.718+4290G=
ENST00000409161.5:c.2492G=	ENSP00000386491.1:p.Arg831=
ENST00000412252.5:c.755+4290G=
ENST00000423696.6:c.3143G=	ENSP00000394536.2:p.Arg1048=
ENST00000424924.5:c.2117G=	ENSP00000402944.1:p.Arg706=
ENST00000449833.6:c.2516G=	ENSP00000399423.3:p.Arg839=
ENST00000601538.5:c.4280G=	ENSP00000469689.2:p.Arg1427=
NM_012309.4:c.4280G=	NP_036441.2:p.Arg1427=
NM_133266.4:c.2516G=	NP_573573.2:p.Arg839=
NR_110766.1:n.833+4290G=
XM_005277930.2:c.4280G=	XP_005277987.1:p.Arg1427=
XM_005277932.2:c.3143G=	XP_005277989.1:p.Arg1048=
XM_006718478.2:c.4250G=	XP_006718541.1:p.Arg1417=
XM_011544854.1:c.4292G=	XP_011543156.1:p.Arg1431=
XM_011544855.1:c.4271G=	XP_011543157.1:p.Arg1424=
XM_011544856.1:c.4265G=	XP_011543158.1:p.Arg1422=
XM_011544857.1:c.4244G=	XP_011543159.1:p.Arg1415=
XM_011544858.1:c.4292G=	XP_011543160.1:p.Arg1431=
XM_011544859.1:c.3155G=	XP_011543161.1:p.Arg1052=
XM_005277932.3:c.3143G=	XP_005277989.1:p.Arg1048=
XM_017017387.1:c.4280G=	XP_016872876.1:p.Arg1427=
XM_017017388.1:c.4280G=	XP_016872877.1:p.Arg1427=
XM_017017389.1:c.4253G=	XP_016872878.1:p.Arg1418=
XM_017017390.1:c.2570G=	XP_016872879.1:p.Arg857=
NM_133266.5:c.2516G=	NP_573573.2:p.Arg839=
NR_110766.2:n.834+4290G=
NM_001379226.1:c.3143G=	NP_001366155.1:p.Arg1048=
NM_012309.5:c.4280G= MANE Select	NP_036441.2:p.Arg1427=