Canonical Allele Identifier: CA475470730

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319403G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473298G>T , CM000673.2:g.70473298G>T	GRCh38
NC_000011.9:g.70319403G>T , CM000673.1:g.70319403G>T	GRCh37
NC_000011.8:g.69997051G>T	NCBI36
NG_042866.1:g.656499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3354C>A	ENSP00000345193.7:p.Ala1118=
ENST00000412252.6:c.899C>A	ENSP00000414876.2:n.899C>A
ENST00000601538.6:c.5121C>A MANE Select	ENSP00000469689.2:p.Ala1707=
ENST00000654939.1:c.2630C>A
ENST00000656230.1:c.3984C>A	ENSP00000499561.1:p.Ala1328=
ENST00000659264.1:c.3411C>A	ENSP00000499270.1:p.Ala1137=
ENST00000338508.8:c.3357C>A	ENSP00000345193.6:p.Ala1119=
ENST00000357171.7:c.*125C>A	ENSP00000349694.4:n.*125C>A
ENST00000409161.5:c.3333C>A	ENSP00000386491.1:p.Ala1111=
ENST00000412252.5:c.897C>A
ENST00000423696.6:c.3984C>A	ENSP00000394536.2:p.Ala1328=
ENST00000424924.5:c.2958C>A	ENSP00000402944.1:p.Ala986=
ENST00000449833.6:c.3357C>A	ENSP00000399423.3:p.Ala1119=
ENST00000601538.5:c.5121C>A	ENSP00000469689.2:p.Ala1707=
ENST00000606715.3:n.1873C>A
NM_012309.4:c.5121C>A	NP_036441.2:p.Ala1707=
NM_133266.4:c.3357C>A	NP_573573.2:p.Ala1119=
NR_110766.1:n.975C>A
XM_005277930.2:c.5121C>A	XP_005277987.1:p.Ala1707=
XM_005277932.2:c.3984C>A	XP_005277989.1:p.Ala1328=
XM_006718478.2:c.5091C>A	XP_006718541.1:p.Ala1697=
XM_011544854.1:c.5133C>A	XP_011543156.1:p.Ala1711=
XM_011544855.1:c.5112C>A	XP_011543157.1:p.Ala1704=
XM_011544856.1:c.5106C>A	XP_011543158.1:p.Ala1702=
XM_011544857.1:c.5085C>A	XP_011543159.1:p.Ala1695=
XM_011544859.1:c.3996C>A	XP_011543161.1:p.Ala1332=
XM_005277932.3:c.3984C>A	XP_005277989.1:p.Ala1328=
XM_017017387.1:c.5121C>A	XP_016872876.1:p.Ala1707=
XM_017017388.1:c.5121C>A	XP_016872877.1:p.Ala1707=
XM_017017389.1:c.5094C>A	XP_016872878.1:p.Ala1698=
XM_017017390.1:c.3411C>A	XP_016872879.1:p.Ala1137=
NM_133266.5:c.3357C>A	NP_573573.2:p.Ala1119=
NR_110766.2:n.976C>A
NM_001379226.1:c.3984C>A	NP_001366155.1:p.Ala1328=
NM_012309.5:c.5121C>A MANE Select	NP_036441.2:p.Ala1707=