Canonical Allele Identifier: CA1981067972

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473263T= , CM000673.2:g.70473263T=	GRCh38
NC_000011.9:g.70319368T= , CM000673.1:g.70319368T=	GRCh37
NC_000011.8:g.69997016T=	NCBI36
NG_042866.1:g.656534A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3389A=	ENSP00000345193.7:p.Lys1130=
ENST00000412252.6:c.934A=	ENSP00000414876.2:n.934A=
ENST00000601538.6:c.5156A= MANE Select	ENSP00000469689.2:p.Lys1719=
ENST00000654939.1:c.2665A=
ENST00000656230.1:c.4019A=	ENSP00000499561.1:p.Lys1340=
ENST00000659264.1:c.3446A=	ENSP00000499270.1:p.Lys1149=
ENST00000338508.8:c.3392A=	ENSP00000345193.6:p.Lys1131=
ENST00000357171.7:c.*160A=	ENSP00000349694.4:n.*160A=
ENST00000409161.5:c.3368A=	ENSP00000386491.1:p.Lys1123=
ENST00000412252.5:c.932A=
ENST00000423696.6:c.4019A=	ENSP00000394536.2:p.Lys1340=
ENST00000424924.5:c.2993A=	ENSP00000402944.1:p.Lys998=
ENST00000449833.6:c.3392A=	ENSP00000399423.3:p.Lys1131=
ENST00000601538.5:c.5156A=	ENSP00000469689.2:p.Lys1719=
ENST00000606715.3:n.1908A=
NM_012309.4:c.5156A=	NP_036441.2:p.Lys1719=
NM_133266.4:c.3392A=	NP_573573.2:p.Lys1131=
NR_110766.1:n.1010A=
XM_005277930.2:c.5156A=	XP_005277987.1:p.Lys1719=
XM_005277932.2:c.4019A=	XP_005277989.1:p.Lys1340=
XM_006718478.2:c.5126A=	XP_006718541.1:p.Lys1709=
XM_011544854.1:c.5168A=	XP_011543156.1:p.Lys1723=
XM_011544855.1:c.5147A=	XP_011543157.1:p.Lys1716=
XM_011544856.1:c.5141A=	XP_011543158.1:p.Lys1714=
XM_011544857.1:c.5120A=	XP_011543159.1:p.Lys1707=
XM_011544859.1:c.4031A=	XP_011543161.1:p.Lys1344=
XM_005277932.3:c.4019A=	XP_005277989.1:p.Lys1340=
XM_017017387.1:c.5156A=	XP_016872876.1:p.Lys1719=
XM_017017388.1:c.5156A=	XP_016872877.1:p.Lys1719=
XM_017017389.1:c.5129A=	XP_016872878.1:p.Lys1710=
XM_017017390.1:c.3446A=	XP_016872879.1:p.Lys1149=
NM_133266.5:c.3392A=	NP_573573.2:p.Lys1131=
NR_110766.2:n.1011A=
NM_001379226.1:c.4019A=	NP_001366155.1:p.Lys1340=
NM_012309.5:c.5156A= MANE Select	NP_036441.2:p.Lys1719=