Canonical Allele Identifier: CA354073

Gene: SHANK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70661641dup , CM000673.2:g.70661641dup	GRCh38
NC_000011.9:g.70507746dup , CM000673.1:g.70507746dup	GRCh37
NC_000011.8:g.70185394dup	NCBI36
NG_042866.1:g.468161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.129dup	ENSP00000345193.7:p.Asp44ArgfsTer3
ENST00000412252.6:c.129dup	ENSP00000414876.2:p.Asp44ArgfsTer3
ENST00000686462.1:n.122dup
ENST00000690983.1:n.322dup
ENST00000601538.6:c.1896dup MANE Select	ENSP00000469689.2:p.Asp633ArgfsTer3
ENST00000656230.1:c.759dup	ENSP00000499561.1:p.Asp254ArgfsTer3
ENST00000659264.1:c.186dup	ENSP00000499270.1:p.Asp63ArgfsTer3
ENST00000338508.8:c.132dup	ENSP00000345193.6:p.Asp45ArgfsTer3
ENST00000357171.7:c.93dup	ENSP00000349694.4:p.Asp32ArgfsTer3
ENST00000409161.5:c.129dup	ENSP00000386491.1:p.Asp44ArgfsTer3
ENST00000409530.5:c.132dup	ENSP00000387324.2:p.Asp45ArgfsTer3
ENST00000412252.5:c.127dup
ENST00000423696.6:c.759dup	ENSP00000394536.2:p.Asp254ArgfsTer3
ENST00000426687.2:c.125dup
ENST00000449116.6:c.132dup	ENSP00000394939.2:p.Asp45ArgfsTer3
ENST00000449833.6:c.132dup	ENSP00000399423.3:p.Asp45ArgfsTer3
ENST00000470759.5:n.306dup
ENST00000601538.5:c.1896dup	ENSP00000469689.2:p.Asp633ArgfsTer3
NM_012309.4:c.1896dup	NP_036441.2:p.Asp633ArgfsTer3
NM_133266.4:c.132dup	NP_573573.2:p.Asp45ArgfsTer3
NR_110766.1:n.205dup
XM_005277930.2:c.1896dup	XP_005277987.1:p.Asp633ArgfsTer3
XM_005277932.2:c.759dup	XP_005277989.1:p.Asp254ArgfsTer3
XM_006718478.2:c.1896dup	XP_006718541.1:p.Asp633ArgfsTer3
XM_011544854.1:c.1896dup	XP_011543156.1:p.Asp633ArgfsTer3
XM_011544855.1:c.1896dup	XP_011543157.1:p.Asp633ArgfsTer3
XM_011544856.1:c.1896dup	XP_011543158.1:p.Asp633ArgfsTer3
XM_011544857.1:c.1896dup	XP_011543159.1:p.Asp633ArgfsTer3
XM_011544858.1:c.1896dup	XP_011543160.1:p.Asp633ArgfsTer3
XM_011544859.1:c.759dup	XP_011543161.1:p.Asp254ArgfsTer3
XM_005277932.3:c.759dup	XP_005277989.1:p.Asp254ArgfsTer3
XM_017017387.1:c.1896dup	XP_016872876.1:p.Asp633ArgfsTer3
XM_017017388.1:c.1896dup	XP_016872877.1:p.Asp633ArgfsTer3
XM_017017389.1:c.1896dup	XP_016872878.1:p.Asp633ArgfsTer3
XM_017017390.1:c.186dup	XP_016872879.1:p.Asp63ArgfsTer3
NM_133266.5:c.132dup	NP_573573.2:p.Asp45ArgfsTer3
NR_110766.2:n.206dup
NM_001379226.1:c.759dup	NP_001366155.1:p.Asp254ArgfsTer3
NM_012309.5:c.1896dup MANE Select	NP_036441.2:p.Asp633ArgfsTer3