Canonical Allele Identifier: CA2792603590

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473248dup , CM000673.2:g.70473248dup	GRCh38
NC_000011.9:g.70319353dup , CM000673.1:g.70319353dup	GRCh37
NC_000011.8:g.69997001dup	NCBI36
NG_042866.1:g.656554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3409dup	ENSP00000345193.7:p.Leu1137ProfsTer17
ENST00000412252.6:c.954dup	ENSP00000414876.2:n.954dup
ENST00000601538.6:c.5176dup MANE Select	ENSP00000469689.2:p.Leu1726ProfsTer17
ENST00000654939.1:c.2685dup
ENST00000656230.1:c.4039dup	ENSP00000499561.1:p.Leu1347ProfsTer17
ENST00000659264.1:c.3466dup	ENSP00000499270.1:p.Leu1156ProfsTer17
ENST00000338508.8:c.3412dup	ENSP00000345193.6:p.Leu1138ProfsTer17
ENST00000357171.7:c.*180dup	ENSP00000349694.4:n.*180dup
ENST00000409161.5:c.3388dup	ENSP00000386491.1:p.Leu1130ProfsTer17
ENST00000412252.5:c.952dup
ENST00000423696.6:c.4039dup	ENSP00000394536.2:p.Leu1347ProfsTer17
ENST00000424924.5:c.3013dup	ENSP00000402944.1:p.Leu1005ProfsTer17
ENST00000449833.6:c.3412dup	ENSP00000399423.3:p.Leu1138ProfsTer17
ENST00000601538.5:c.5176dup	ENSP00000469689.2:p.Leu1726ProfsTer17
ENST00000606715.3:n.1928dup
NM_012309.4:c.5176dup	NP_036441.2:p.Leu1726ProfsTer17
NM_133266.4:c.3412dup	NP_573573.2:p.Leu1138ProfsTer17
NR_110766.1:n.1030dup
XM_005277930.2:c.5176dup	XP_005277987.1:p.Leu1726ProfsTer17
XM_005277932.2:c.4039dup	XP_005277989.1:p.Leu1347ProfsTer17
XM_006718478.2:c.5146dup	XP_006718541.1:p.Leu1716ProfsTer17
XM_011544854.1:c.5188dup	XP_011543156.1:p.Leu1730ProfsTer17
XM_011544855.1:c.5167dup	XP_011543157.1:p.Leu1723ProfsTer17
XM_011544856.1:c.5161dup	XP_011543158.1:p.Leu1721ProfsTer17
XM_011544857.1:c.5140dup	XP_011543159.1:p.Leu1714ProfsTer17
XM_011544859.1:c.4051dup	XP_011543161.1:p.Leu1351ProfsTer17
XM_005277932.3:c.4039dup	XP_005277989.1:p.Leu1347ProfsTer17
XM_017017387.1:c.5176dup	XP_016872876.1:p.Leu1726ProfsTer17
XM_017017388.1:c.5176dup	XP_016872877.1:p.Leu1726ProfsTer17
XM_017017389.1:c.5149dup	XP_016872878.1:p.Leu1717ProfsTer17
XM_017017390.1:c.3466dup	XP_016872879.1:p.Leu1156ProfsTer17
NM_133266.5:c.3412dup	NP_573573.2:p.Leu1138ProfsTer17
NR_110766.2:n.1031dup
NM_001379226.1:c.4039dup	NP_001366155.1:p.Leu1347ProfsTer17
NM_012309.5:c.5176dup MANE Select	NP_036441.2:p.Leu1726ProfsTer17