Canonical Allele Identifier: CA1981067964

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473243G= , CM000673.2:g.70473243G=	GRCh38
NC_000011.9:g.70319348G= , CM000673.1:g.70319348G=	GRCh37
NC_000011.8:g.69996996G=	NCBI36
NG_042866.1:g.656554C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3409C=	ENSP00000345193.7:p.Leu1137=
ENST00000412252.6:c.954C=	ENSP00000414876.2:n.954C=
ENST00000601538.6:c.5176C= MANE Select	ENSP00000469689.2:p.Leu1726=
ENST00000654939.1:c.2685C=
ENST00000656230.1:c.4039C=	ENSP00000499561.1:p.Leu1347=
ENST00000659264.1:c.3466C=	ENSP00000499270.1:p.Leu1156=
ENST00000338508.8:c.3412C=	ENSP00000345193.6:p.Leu1138=
ENST00000357171.7:c.*180C=	ENSP00000349694.4:n.*180C=
ENST00000409161.5:c.3388C=	ENSP00000386491.1:p.Leu1130=
ENST00000412252.5:c.952C=
ENST00000423696.6:c.4039C=	ENSP00000394536.2:p.Leu1347=
ENST00000424924.5:c.3013C=	ENSP00000402944.1:p.Leu1005=
ENST00000449833.6:c.3412C=	ENSP00000399423.3:p.Leu1138=
ENST00000601538.5:c.5176C=	ENSP00000469689.2:p.Leu1726=
ENST00000606715.3:n.1928C=
NM_012309.4:c.5176C=	NP_036441.2:p.Leu1726=
NM_133266.4:c.3412C=	NP_573573.2:p.Leu1138=
NR_110766.1:n.1030C=
XM_005277930.2:c.5176C=	XP_005277987.1:p.Leu1726=
XM_005277932.2:c.4039C=	XP_005277989.1:p.Leu1347=
XM_006718478.2:c.5146C=	XP_006718541.1:p.Leu1716=
XM_011544854.1:c.5188C=	XP_011543156.1:p.Leu1730=
XM_011544855.1:c.5167C=	XP_011543157.1:p.Leu1723=
XM_011544856.1:c.5161C=	XP_011543158.1:p.Leu1721=
XM_011544857.1:c.5140C=	XP_011543159.1:p.Leu1714=
XM_011544859.1:c.4051C=	XP_011543161.1:p.Leu1351=
XM_005277932.3:c.4039C=	XP_005277989.1:p.Leu1347=
XM_017017387.1:c.5176C=	XP_016872876.1:p.Leu1726=
XM_017017388.1:c.5176C=	XP_016872877.1:p.Leu1726=
XM_017017389.1:c.5149C=	XP_016872878.1:p.Leu1717=
XM_017017390.1:c.3466C=	XP_016872879.1:p.Leu1156=
NM_133266.5:c.3412C=	NP_573573.2:p.Leu1138=
NR_110766.2:n.1031C=
NM_001379226.1:c.4039C=	NP_001366155.1:p.Leu1347=
NM_012309.5:c.5176C= MANE Select	NP_036441.2:p.Leu1726=