Canonical Allele Identifier: CA1981067960
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473233G= , CM000673.2:g.70473233G= GRCh38
NC_000011.9:g.70319338G= , CM000673.1:g.70319338G= GRCh37
NC_000011.8:g.69996986G= NCBI36
NG_042866.1:g.656564C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3419C= ENSP00000345193.7:p.Ala1140=
ENST00000412252.6:c.964C= ENSP00000414876.2:n.964C=
ENST00000601538.6:c.5186C= MANE Select ENSP00000469689.2:p.Ala1729=
ENST00000654939.1:c.2695C=
ENST00000656230.1:c.4049C= ENSP00000499561.1:p.Ala1350=
ENST00000659264.1:c.3476C= ENSP00000499270.1:p.Ala1159=
ENST00000338508.8:c.3422C= ENSP00000345193.6:p.Ala1141=
ENST00000357171.7:c.*190C= ENSP00000349694.4:n.*190C=
ENST00000409161.5:c.3398C= ENSP00000386491.1:p.Ala1133=
ENST00000412252.5:c.962C=
ENST00000423696.6:c.4049C= ENSP00000394536.2:p.Ala1350=
ENST00000424924.5:c.3023C= ENSP00000402944.1:p.Ala1008=
ENST00000449833.6:c.3422C= ENSP00000399423.3:p.Ala1141=
ENST00000601538.5:c.5186C= ENSP00000469689.2:p.Ala1729=
ENST00000606715.3:n.1938C=
NM_012309.4:c.5186C= NP_036441.2:p.Ala1729=
NM_133266.4:c.3422C= NP_573573.2:p.Ala1141=
NR_110766.1:n.1040C=
XM_005277930.2:c.5186C= XP_005277987.1:p.Ala1729=
XM_005277932.2:c.4049C= XP_005277989.1:p.Ala1350=
XM_006718478.2:c.5156C= XP_006718541.1:p.Ala1719=
XM_011544854.1:c.5198C= XP_011543156.1:p.Ala1733=
XM_011544855.1:c.5177C= XP_011543157.1:p.Ala1726=
XM_011544856.1:c.5171C= XP_011543158.1:p.Ala1724=
XM_011544857.1:c.5150C= XP_011543159.1:p.Ala1717=
XM_011544859.1:c.4061C= XP_011543161.1:p.Ala1354=
XM_005277932.3:c.4049C= XP_005277989.1:p.Ala1350=
XM_017017387.1:c.5186C= XP_016872876.1:p.Ala1729=
XM_017017388.1:c.5186C= XP_016872877.1:p.Ala1729=
XM_017017389.1:c.5159C= XP_016872878.1:p.Ala1720=
XM_017017390.1:c.3476C= XP_016872879.1:p.Ala1159=
NM_133266.5:c.3422C= NP_573573.2:p.Ala1141=
NR_110766.2:n.1041C=
NM_001379226.1:c.4049C= NP_001366155.1:p.Ala1350=
NM_012309.5:c.5186C= MANE Select NP_036441.2:p.Ala1729=