Canonical Allele Identifier: CA475470733

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319406A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473301A>T , CM000673.2:g.70473301A>T	GRCh38
NC_000011.9:g.70319406A>T , CM000673.1:g.70319406A>T	GRCh37
NC_000011.8:g.69997054A>T	NCBI36
NG_042866.1:g.656496T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3351T>A	ENSP00000345193.7:p.Arg1117=
ENST00000412252.6:c.896T>A	ENSP00000414876.2:n.896T>A
ENST00000601538.6:c.5118T>A MANE Select	ENSP00000469689.2:p.Arg1706=
ENST00000654939.1:c.2627T>A
ENST00000656230.1:c.3981T>A	ENSP00000499561.1:p.Arg1327=
ENST00000659264.1:c.3408T>A	ENSP00000499270.1:p.Arg1136=
ENST00000338508.8:c.3354T>A	ENSP00000345193.6:p.Arg1118=
ENST00000357171.7:c.*122T>A	ENSP00000349694.4:n.*122T>A
ENST00000409161.5:c.3330T>A	ENSP00000386491.1:p.Arg1110=
ENST00000412252.5:c.894T>A
ENST00000423696.6:c.3981T>A	ENSP00000394536.2:p.Arg1327=
ENST00000424924.5:c.2955T>A	ENSP00000402944.1:p.Arg985=
ENST00000449833.6:c.3354T>A	ENSP00000399423.3:p.Arg1118=
ENST00000601538.5:c.5118T>A	ENSP00000469689.2:p.Arg1706=
ENST00000606715.3:n.1870T>A
NM_012309.4:c.5118T>A	NP_036441.2:p.Arg1706=
NM_133266.4:c.3354T>A	NP_573573.2:p.Arg1118=
NR_110766.1:n.972T>A
XM_005277930.2:c.5118T>A	XP_005277987.1:p.Arg1706=
XM_005277932.2:c.3981T>A	XP_005277989.1:p.Arg1327=
XM_006718478.2:c.5088T>A	XP_006718541.1:p.Arg1696=
XM_011544854.1:c.5130T>A	XP_011543156.1:p.Arg1710=
XM_011544855.1:c.5109T>A	XP_011543157.1:p.Arg1703=
XM_011544856.1:c.5103T>A	XP_011543158.1:p.Arg1701=
XM_011544857.1:c.5082T>A	XP_011543159.1:p.Arg1694=
XM_011544859.1:c.3993T>A	XP_011543161.1:p.Arg1331=
XM_005277932.3:c.3981T>A	XP_005277989.1:p.Arg1327=
XM_017017387.1:c.5118T>A	XP_016872876.1:p.Arg1706=
XM_017017388.1:c.5118T>A	XP_016872877.1:p.Arg1706=
XM_017017389.1:c.5091T>A	XP_016872878.1:p.Arg1697=
XM_017017390.1:c.3408T>A	XP_016872879.1:p.Arg1136=
NM_133266.5:c.3354T>A	NP_573573.2:p.Arg1118=
NR_110766.2:n.973T>A
NM_001379226.1:c.3981T>A	NP_001366155.1:p.Arg1327=
NM_012309.5:c.5118T>A MANE Select	NP_036441.2:p.Arg1706=