Canonical Allele Identifier: CA1981067948

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473212G= , CM000673.2:g.70473212G=	GRCh38
NC_000011.9:g.70319317G= , CM000673.1:g.70319317G=	GRCh37
NC_000011.8:g.69996965G=	NCBI36
NG_042866.1:g.656585C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3440C=	ENSP00000345193.7:p.Ala1147=
ENST00000412252.6:c.985C=	ENSP00000414876.2:n.985C=
ENST00000601538.6:c.5207C= MANE Select	ENSP00000469689.2:p.Ala1736=
ENST00000654939.1:c.2716C=
ENST00000656230.1:c.4070C=	ENSP00000499561.1:p.Ala1357=
ENST00000659264.1:c.3497C=	ENSP00000499270.1:p.Ala1166=
ENST00000338508.8:c.3443C=	ENSP00000345193.6:p.Ala1148=
ENST00000357171.7:c.*211C=	ENSP00000349694.4:n.*211C=
ENST00000409161.5:c.3419C=	ENSP00000386491.1:p.Ala1140=
ENST00000412252.5:c.983C=
ENST00000423696.6:c.4070C=	ENSP00000394536.2:p.Ala1357=
ENST00000424924.5:c.3044C=	ENSP00000402944.1:p.Ala1015=
ENST00000449833.6:c.3443C=	ENSP00000399423.3:p.Ala1148=
ENST00000601538.5:c.5207C=	ENSP00000469689.2:p.Ala1736=
ENST00000606715.3:n.1959C=
NM_012309.4:c.5207C=	NP_036441.2:p.Ala1736=
NM_133266.4:c.3443C=	NP_573573.2:p.Ala1148=
NR_110766.1:n.1061C=
XM_005277930.2:c.5207C=	XP_005277987.1:p.Ala1736=
XM_005277932.2:c.4070C=	XP_005277989.1:p.Ala1357=
XM_006718478.2:c.5177C=	XP_006718541.1:p.Ala1726=
XM_011544854.1:c.5219C=	XP_011543156.1:p.Ala1740=
XM_011544855.1:c.5198C=	XP_011543157.1:p.Ala1733=
XM_011544856.1:c.5192C=	XP_011543158.1:p.Ala1731=
XM_011544857.1:c.5171C=	XP_011543159.1:p.Ala1724=
XM_011544859.1:c.4082C=	XP_011543161.1:p.Ala1361=
XM_005277932.3:c.4070C=	XP_005277989.1:p.Ala1357=
XM_017017387.1:c.5207C=	XP_016872876.1:p.Ala1736=
XM_017017388.1:c.5207C=	XP_016872877.1:p.Ala1736=
XM_017017389.1:c.5180C=	XP_016872878.1:p.Ala1727=
XM_017017390.1:c.3497C=	XP_016872879.1:p.Ala1166=
NM_133266.5:c.3443C=	NP_573573.2:p.Ala1148=
NR_110766.2:n.1062C=
NM_001379226.1:c.4070C=	NP_001366155.1:p.Ala1357=
NM_012309.5:c.5207C= MANE Select	NP_036441.2:p.Ala1736=