Canonical Allele Identifier: CA2573053561

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485846_70485847dup , CM000673.2:g.70485846_70485847dup	GRCh38
NC_000011.9:g.70331951_70331952dup , CM000673.1:g.70331951_70331952dup	GRCh37
NC_000011.8:g.70009599_70009600dup	NCBI36
NG_042866.1:g.643950_643951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2679_2680dup	ENSP00000345193.7:p.Phe894SerfsTer?
ENST00000412252.6:c.757+4456_757+4457dup	ENSP00000414876.2:n.757+4456_757+4457dup
ENST00000601538.6:c.4446_4447dup MANE Select	ENSP00000469689.2:p.Phe1483SerfsTer?
ENST00000654939.1:c.1874_1875dup
ENST00000656230.1:c.3309_3310dup	ENSP00000499561.1:p.Phe1104SerfsTer?
ENST00000659264.1:c.2736_2737dup	ENSP00000499270.1:p.Phe913SerfsTer?
ENST00000338508.8:c.2682_2683dup	ENSP00000345193.6:p.Phe895SerfsTer?
ENST00000357171.7:c.718+4456_718+4457dup	ENSP00000349694.4:n.718+4456_718+4457dup
ENST00000409161.5:c.2658_2659dup	ENSP00000386491.1:p.Phe887SerfsTer?
ENST00000412252.5:c.755+4456_755+4457dup
ENST00000423696.6:c.3309_3310dup	ENSP00000394536.2:p.Phe1104SerfsTer?
ENST00000424924.5:c.2283_2284dup	ENSP00000402944.1:p.Phe762SerfsTer?
ENST00000449833.6:c.2682_2683dup	ENSP00000399423.3:p.Phe895SerfsTer?
ENST00000601538.5:c.4446_4447dup	ENSP00000469689.2:p.Phe1483SerfsTer?
NM_012309.4:c.4446_4447dup	NP_036441.2:p.Phe1483SerfsTer?
NM_133266.4:c.2682_2683dup	NP_573573.2:p.Phe895SerfsTer?
NR_110766.1:n.833+4456_833+4457dup
XM_005277930.2:c.4446_4447dup	XP_005277987.1:p.Phe1483SerfsTer?
XM_005277932.2:c.3309_3310dup	XP_005277989.1:p.Phe1104SerfsTer?
XM_006718478.2:c.4416_4417dup	XP_006718541.1:p.Phe1473SerfsTer?
XM_011544854.1:c.4458_4459dup	XP_011543156.1:p.Phe1487SerfsTer?
XM_011544855.1:c.4437_4438dup	XP_011543157.1:p.Phe1480SerfsTer?
XM_011544856.1:c.4431_4432dup	XP_011543158.1:p.Phe1478SerfsTer?
XM_011544857.1:c.4410_4411dup	XP_011543159.1:p.Phe1471SerfsTer?
XM_011544858.1:c.4458_4459dup	XP_011543160.1:p.Phe1487SerfsTer?
XM_011544859.1:c.3321_3322dup	XP_011543161.1:p.Phe1108SerfsTer?
XM_005277932.3:c.3309_3310dup	XP_005277989.1:p.Phe1104SerfsTer?
XM_017017387.1:c.4446_4447dup	XP_016872876.1:p.Phe1483SerfsTer?
XM_017017388.1:c.4446_4447dup	XP_016872877.1:p.Phe1483SerfsTer?
XM_017017389.1:c.4419_4420dup	XP_016872878.1:p.Phe1474SerfsTer?
XM_017017390.1:c.2736_2737dup	XP_016872879.1:p.Phe913SerfsTer?
NM_133266.5:c.2682_2683dup	NP_573573.2:p.Phe895SerfsTer?
NR_110766.2:n.834+4456_834+4457dup
NM_001379226.1:c.3309_3310dup	NP_001366155.1:p.Phe1104SerfsTer?
NM_012309.5:c.4446_4447dup MANE Select	NP_036441.2:p.Phe1483SerfsTer?