Canonical Allele Identifier: CA2792603589

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473180dup , CM000673.2:g.70473180dup	GRCh38
NC_000011.9:g.70319285dup , CM000673.1:g.70319285dup	GRCh37
NC_000011.8:g.69996933dup	NCBI36
NG_042866.1:g.656621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3476dup	ENSP00000345193.7:p.Ser1160PhefsTer14
ENST00000412252.6:c.1021dup	ENSP00000414876.2:n.1021dup
ENST00000601538.6:c.5243dup MANE Select	ENSP00000469689.2:p.Ser1749PhefsTer14
ENST00000654939.1:c.2752dup
ENST00000656230.1:c.4106dup	ENSP00000499561.1:p.Ser1370PhefsTer14
ENST00000659264.1:c.3533dup	ENSP00000499270.1:p.Ser1179PhefsTer14
ENST00000338508.8:c.3479dup	ENSP00000345193.6:p.Ser1161PhefsTer14
ENST00000357171.7:c.*247dup	ENSP00000349694.4:n.*247dup
ENST00000409161.5:c.3455dup	ENSP00000386491.1:p.Ser1153PhefsTer14
ENST00000412252.5:c.1019dup
ENST00000423696.6:c.4106dup	ENSP00000394536.2:p.Ser1370PhefsTer14
ENST00000424924.5:c.3080dup	ENSP00000402944.1:p.Ser1028PhefsTer14
ENST00000449833.6:c.3479dup	ENSP00000399423.3:p.Ser1161PhefsTer14
ENST00000601538.5:c.5243dup	ENSP00000469689.2:p.Ser1749PhefsTer14
ENST00000606715.3:n.1995dup
NM_012309.4:c.5243dup	NP_036441.2:p.Ser1749PhefsTer14
NM_133266.4:c.3479dup	NP_573573.2:p.Ser1161PhefsTer14
NR_110766.1:n.1097dup
XM_005277930.2:c.5243dup	XP_005277987.1:p.Ser1749PhefsTer14
XM_005277932.2:c.4106dup	XP_005277989.1:p.Ser1370PhefsTer14
XM_006718478.2:c.5213dup	XP_006718541.1:p.Ser1739PhefsTer14
XM_011544854.1:c.5255dup	XP_011543156.1:p.Ser1753PhefsTer14
XM_011544855.1:c.5234dup	XP_011543157.1:p.Ser1746PhefsTer14
XM_011544856.1:c.5228dup	XP_011543158.1:p.Ser1744PhefsTer14
XM_011544857.1:c.5207dup	XP_011543159.1:p.Ser1737PhefsTer14
XM_011544859.1:c.4118dup	XP_011543161.1:p.Ser1374PhefsTer14
XM_005277932.3:c.4106dup	XP_005277989.1:p.Ser1370PhefsTer14
XM_017017387.1:c.5243dup	XP_016872876.1:p.Ser1749PhefsTer14
XM_017017388.1:c.5243dup	XP_016872877.1:p.Ser1749PhefsTer14
XM_017017389.1:c.5216dup	XP_016872878.1:p.Ser1740PhefsTer14
XM_017017390.1:c.3533dup	XP_016872879.1:p.Ser1179PhefsTer14
NM_133266.5:c.3479dup	NP_573573.2:p.Ser1161PhefsTer14
NR_110766.2:n.1098dup
NM_001379226.1:c.4106dup	NP_001366155.1:p.Ser1370PhefsTer14
NM_012309.5:c.5243dup MANE Select	NP_036441.2:p.Ser1749PhefsTer14