Canonical Allele Identifier: CA1981067918

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473120A= , CM000673.2:g.70473120A=	GRCh38
NC_000011.9:g.70319225A= , CM000673.1:g.70319225A=	GRCh37
NC_000011.8:g.69996873A=	NCBI36
NG_042866.1:g.656677T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532T=	ENSP00000345193.7:p.Ser1178=
ENST00000412252.6:c.1077T=	ENSP00000414876.2:n.1077T=
ENST00000601538.6:c.5299T= MANE Select	ENSP00000469689.2:p.Ser1767=
ENST00000654939.1:c.2808T=
ENST00000656230.1:c.4162T=	ENSP00000499561.1:p.Ser1388=
ENST00000659264.1:c.3589T=	ENSP00000499270.1:p.Ser1197=
ENST00000338508.8:c.3535T=	ENSP00000345193.6:p.Ser1179=
ENST00000357171.7:c.*303T=	ENSP00000349694.4:n.*303T=
ENST00000409161.5:c.3511T=	ENSP00000386491.1:p.Ser1171=
ENST00000412252.5:c.1075T=
ENST00000423696.6:c.4162T=	ENSP00000394536.2:p.Ser1388=
ENST00000424924.5:c.3136T=	ENSP00000402944.1:p.Ser1046=
ENST00000449833.6:c.3535T=	ENSP00000399423.3:p.Ser1179=
ENST00000601538.5:c.5299T=	ENSP00000469689.2:p.Ser1767=
ENST00000606715.3:n.2051T=
NM_012309.4:c.5299T=	NP_036441.2:p.Ser1767=
NM_133266.4:c.3535T=	NP_573573.2:p.Ser1179=
NR_110766.1:n.1153T=
XM_005277930.2:c.5299T=	XP_005277987.1:p.Ser1767=
XM_005277932.2:c.4162T=	XP_005277989.1:p.Ser1388=
XM_006718478.2:c.5269T=	XP_006718541.1:p.Ser1757=
XM_011544854.1:c.5311T=	XP_011543156.1:p.Ser1771=
XM_011544855.1:c.5290T=	XP_011543157.1:p.Ser1764=
XM_011544856.1:c.5284T=	XP_011543158.1:p.Ser1762=
XM_011544857.1:c.5263T=	XP_011543159.1:p.Ser1755=
XM_011544859.1:c.4174T=	XP_011543161.1:p.Ser1392=
XM_005277932.3:c.4162T=	XP_005277989.1:p.Ser1388=
XM_017017387.1:c.5299T=	XP_016872876.1:p.Ser1767=
XM_017017388.1:c.5299T=	XP_016872877.1:p.Ser1767=
XM_017017389.1:c.5272T=	XP_016872878.1:p.Ser1758=
XM_017017390.1:c.3589T=	XP_016872879.1:p.Ser1197=
NM_133266.5:c.3535T=	NP_573573.2:p.Ser1179=
NR_110766.2:n.1154T=
NM_001379226.1:c.4162T=	NP_001366155.1:p.Ser1388=
NM_012309.5:c.5299T= MANE Select	NP_036441.2:p.Ser1767=