Canonical Allele Identifier: CA1981067932

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473163T= , CM000673.2:g.70473163T=	GRCh38
NC_000011.9:g.70319268T= , CM000673.1:g.70319268T=	GRCh37
NC_000011.8:g.69996916T=	NCBI36
NG_042866.1:g.656634A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3489A=	ENSP00000345193.7:p.Leu1163=
ENST00000412252.6:c.1034A=	ENSP00000414876.2:n.1034A=
ENST00000601538.6:c.5256A= MANE Select	ENSP00000469689.2:p.Leu1752=
ENST00000654939.1:c.2765A=
ENST00000656230.1:c.4119A=	ENSP00000499561.1:p.Leu1373=
ENST00000659264.1:c.3546A=	ENSP00000499270.1:p.Leu1182=
ENST00000338508.8:c.3492A=	ENSP00000345193.6:p.Leu1164=
ENST00000357171.7:c.*260A=	ENSP00000349694.4:n.*260A=
ENST00000409161.5:c.3468A=	ENSP00000386491.1:p.Leu1156=
ENST00000412252.5:c.1032A=
ENST00000423696.6:c.4119A=	ENSP00000394536.2:p.Leu1373=
ENST00000424924.5:c.3093A=	ENSP00000402944.1:p.Leu1031=
ENST00000449833.6:c.3492A=	ENSP00000399423.3:p.Leu1164=
ENST00000601538.5:c.5256A=	ENSP00000469689.2:p.Leu1752=
ENST00000606715.3:n.2008A=
NM_012309.4:c.5256A=	NP_036441.2:p.Leu1752=
NM_133266.4:c.3492A=	NP_573573.2:p.Leu1164=
NR_110766.1:n.1110A=
XM_005277930.2:c.5256A=	XP_005277987.1:p.Leu1752=
XM_005277932.2:c.4119A=	XP_005277989.1:p.Leu1373=
XM_006718478.2:c.5226A=	XP_006718541.1:p.Leu1742=
XM_011544854.1:c.5268A=	XP_011543156.1:p.Leu1756=
XM_011544855.1:c.5247A=	XP_011543157.1:p.Leu1749=
XM_011544856.1:c.5241A=	XP_011543158.1:p.Leu1747=
XM_011544857.1:c.5220A=	XP_011543159.1:p.Leu1740=
XM_011544859.1:c.4131A=	XP_011543161.1:p.Leu1377=
XM_005277932.3:c.4119A=	XP_005277989.1:p.Leu1373=
XM_017017387.1:c.5256A=	XP_016872876.1:p.Leu1752=
XM_017017388.1:c.5256A=	XP_016872877.1:p.Leu1752=
XM_017017389.1:c.5229A=	XP_016872878.1:p.Leu1743=
XM_017017390.1:c.3546A=	XP_016872879.1:p.Leu1182=
NM_133266.5:c.3492A=	NP_573573.2:p.Leu1164=
NR_110766.2:n.1111A=
NM_001379226.1:c.4119A=	NP_001366155.1:p.Leu1373=
NM_012309.5:c.5256A= MANE Select	NP_036441.2:p.Leu1752=