Canonical Allele Identifier: CA1981067995
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473315A= , CM000673.2:g.70473315A= GRCh38
NC_000011.9:g.70319420A= , CM000673.1:g.70319420A= GRCh37
NC_000011.8:g.69997068A= NCBI36
NG_042866.1:g.656482T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3337T= ENSP00000345193.7:p.Ser1113=
ENST00000412252.6:c.882T= ENSP00000414876.2:n.882T=
ENST00000601538.6:c.5104T= MANE Select ENSP00000469689.2:p.Ser1702=
ENST00000654939.1:c.2613T=
ENST00000656230.1:c.3967T= ENSP00000499561.1:p.Ser1323=
ENST00000659264.1:c.3394T= ENSP00000499270.1:p.Ser1132=
ENST00000338508.8:c.3340T= ENSP00000345193.6:p.Ser1114=
ENST00000357171.7:c.*108T= ENSP00000349694.4:n.*108T=
ENST00000409161.5:c.3316T= ENSP00000386491.1:p.Ser1106=
ENST00000412252.5:c.880T=
ENST00000423696.6:c.3967T= ENSP00000394536.2:p.Ser1323=
ENST00000424924.5:c.2941T= ENSP00000402944.1:p.Ser981=
ENST00000449833.6:c.3340T= ENSP00000399423.3:p.Ser1114=
ENST00000601538.5:c.5104T= ENSP00000469689.2:p.Ser1702=
ENST00000606715.3:n.1856T=
NM_012309.4:c.5104T= NP_036441.2:p.Ser1702=
NM_133266.4:c.3340T= NP_573573.2:p.Ser1114=
NR_110766.1:n.958T=
XM_005277930.2:c.5104T= XP_005277987.1:p.Ser1702=
XM_005277932.2:c.3967T= XP_005277989.1:p.Ser1323=
XM_006718478.2:c.5074T= XP_006718541.1:p.Ser1692=
XM_011544854.1:c.5116T= XP_011543156.1:p.Ser1706=
XM_011544855.1:c.5095T= XP_011543157.1:p.Ser1699=
XM_011544856.1:c.5089T= XP_011543158.1:p.Ser1697=
XM_011544857.1:c.5068T= XP_011543159.1:p.Ser1690=
XM_011544859.1:c.3979T= XP_011543161.1:p.Ser1327=
XM_005277932.3:c.3967T= XP_005277989.1:p.Ser1323=
XM_017017387.1:c.5104T= XP_016872876.1:p.Ser1702=
XM_017017388.1:c.5104T= XP_016872877.1:p.Ser1702=
XM_017017389.1:c.5077T= XP_016872878.1:p.Ser1693=
XM_017017390.1:c.3394T= XP_016872879.1:p.Ser1132=
NM_133266.5:c.3340T= NP_573573.2:p.Ser1114=
NR_110766.2:n.959T=
NM_001379226.1:c.3967T= NP_001366155.1:p.Ser1323=
NM_012309.5:c.5104T= MANE Select NP_036441.2:p.Ser1702=