Canonical Allele Identifier: CA1981067914

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473113A= , CM000673.2:g.70473113A=	GRCh38
NC_000011.9:g.70319218A= , CM000673.1:g.70319218A=	GRCh37
NC_000011.8:g.69996866A=	NCBI36
NG_042866.1:g.656684T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3539T=	ENSP00000345193.7:p.Leu1180=
ENST00000412252.6:c.1084T=	ENSP00000414876.2:n.1084T=
ENST00000601538.6:c.5306T= MANE Select	ENSP00000469689.2:p.Leu1769=
ENST00000654939.1:c.2815T=
ENST00000656230.1:c.4169T=	ENSP00000499561.1:p.Leu1390=
ENST00000659264.1:c.3596T=	ENSP00000499270.1:p.Leu1199=
ENST00000338508.8:c.3542T=	ENSP00000345193.6:p.Leu1181=
ENST00000357171.7:c.*310T=	ENSP00000349694.4:n.*310T=
ENST00000409161.5:c.3518T=	ENSP00000386491.1:p.Leu1173=
ENST00000412252.5:c.1082T=
ENST00000423696.6:c.4169T=	ENSP00000394536.2:p.Leu1390=
ENST00000424924.5:c.3143T=	ENSP00000402944.1:p.Leu1048=
ENST00000449833.6:c.3542T=	ENSP00000399423.3:p.Leu1181=
ENST00000601538.5:c.5306T=	ENSP00000469689.2:p.Leu1769=
ENST00000606715.3:n.2058T=
NM_012309.4:c.5306T=	NP_036441.2:p.Leu1769=
NM_133266.4:c.3542T=	NP_573573.2:p.Leu1181=
NR_110766.1:n.1160T=
XM_005277930.2:c.5306T=	XP_005277987.1:p.Leu1769=
XM_005277932.2:c.4169T=	XP_005277989.1:p.Leu1390=
XM_006718478.2:c.5276T=	XP_006718541.1:p.Leu1759=
XM_011544854.1:c.5318T=	XP_011543156.1:p.Leu1773=
XM_011544855.1:c.5297T=	XP_011543157.1:p.Leu1766=
XM_011544856.1:c.5291T=	XP_011543158.1:p.Leu1764=
XM_011544857.1:c.5270T=	XP_011543159.1:p.Leu1757=
XM_011544859.1:c.4181T=	XP_011543161.1:p.Leu1394=
XM_005277932.3:c.4169T=	XP_005277989.1:p.Leu1390=
XM_017017387.1:c.5306T=	XP_016872876.1:p.Leu1769=
XM_017017388.1:c.5306T=	XP_016872877.1:p.Leu1769=
XM_017017389.1:c.5279T=	XP_016872878.1:p.Leu1760=
XM_017017390.1:c.3596T=	XP_016872879.1:p.Leu1199=
NM_133266.5:c.3542T=	NP_573573.2:p.Leu1181=
NR_110766.2:n.1161T=
NM_001379226.1:c.4169T=	NP_001366155.1:p.Leu1390=
NM_012309.5:c.5306T= MANE Select	NP_036441.2:p.Leu1769=