Canonical Allele Identifier: CA1981068005

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473333C= , CM000673.2:g.70473333C=	GRCh38
NC_000011.9:g.70319438C= , CM000673.1:g.70319438C=	GRCh37
NC_000011.8:g.69997086C=	NCBI36
NG_042866.1:g.656464G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3319G=	ENSP00000345193.7:p.Asp1107=
ENST00000412252.6:c.864G=	ENSP00000414876.2:n.864G=
ENST00000601538.6:c.5086G= MANE Select	ENSP00000469689.2:p.Asp1696=
ENST00000654939.1:c.2595G=
ENST00000656230.1:c.3949G=	ENSP00000499561.1:p.Asp1317=
ENST00000659264.1:c.3376G=	ENSP00000499270.1:p.Asp1126=
ENST00000338508.8:c.3322G=	ENSP00000345193.6:p.Asp1108=
ENST00000357171.7:c.*90G=	ENSP00000349694.4:n.*90G=
ENST00000409161.5:c.3298G=	ENSP00000386491.1:p.Asp1100=
ENST00000412252.5:c.862G=
ENST00000423696.6:c.3949G=	ENSP00000394536.2:p.Asp1317=
ENST00000424924.5:c.2923G=	ENSP00000402944.1:p.Asp975=
ENST00000449833.6:c.3322G=	ENSP00000399423.3:p.Asp1108=
ENST00000601538.5:c.5086G=	ENSP00000469689.2:p.Asp1696=
ENST00000606715.3:n.1838G=
NM_012309.4:c.5086G=	NP_036441.2:p.Asp1696=
NM_133266.4:c.3322G=	NP_573573.2:p.Asp1108=
NR_110766.1:n.940G=
XM_005277930.2:c.5086G=	XP_005277987.1:p.Asp1696=
XM_005277932.2:c.3949G=	XP_005277989.1:p.Asp1317=
XM_006718478.2:c.5056G=	XP_006718541.1:p.Asp1686=
XM_011544854.1:c.5098G=	XP_011543156.1:p.Asp1700=
XM_011544855.1:c.5077G=	XP_011543157.1:p.Asp1693=
XM_011544856.1:c.5071G=	XP_011543158.1:p.Asp1691=
XM_011544857.1:c.5050G=	XP_011543159.1:p.Asp1684=
XM_011544859.1:c.3961G=	XP_011543161.1:p.Asp1321=
XM_005277932.3:c.3949G=	XP_005277989.1:p.Asp1317=
XM_017017387.1:c.5086G=	XP_016872876.1:p.Asp1696=
XM_017017388.1:c.5086G=	XP_016872877.1:p.Asp1696=
XM_017017389.1:c.5059G=	XP_016872878.1:p.Asp1687=
XM_017017390.1:c.3376G=	XP_016872879.1:p.Asp1126=
NM_133266.5:c.3322G=	NP_573573.2:p.Asp1108=
NR_110766.2:n.941G=
NM_001379226.1:c.3949G=	NP_001366155.1:p.Asp1317=
NM_012309.5:c.5086G= MANE Select	NP_036441.2:p.Asp1696=