Canonical Allele Identifier: CA1981067956
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473228C= , CM000673.2:g.70473228C= GRCh38
NC_000011.9:g.70319333C= , CM000673.1:g.70319333C= GRCh37
NC_000011.8:g.69996981C= NCBI36
NG_042866.1:g.656569G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3424G= ENSP00000345193.7:p.Ala1142=
ENST00000412252.6:c.969G= ENSP00000414876.2:n.969G=
ENST00000601538.6:c.5191G= MANE Select ENSP00000469689.2:p.Ala1731=
ENST00000654939.1:c.2700G=
ENST00000656230.1:c.4054G= ENSP00000499561.1:p.Ala1352=
ENST00000659264.1:c.3481G= ENSP00000499270.1:p.Ala1161=
ENST00000338508.8:c.3427G= ENSP00000345193.6:p.Ala1143=
ENST00000357171.7:c.*195G= ENSP00000349694.4:n.*195G=
ENST00000409161.5:c.3403G= ENSP00000386491.1:p.Ala1135=
ENST00000412252.5:c.967G=
ENST00000423696.6:c.4054G= ENSP00000394536.2:p.Ala1352=
ENST00000424924.5:c.3028G= ENSP00000402944.1:p.Ala1010=
ENST00000449833.6:c.3427G= ENSP00000399423.3:p.Ala1143=
ENST00000601538.5:c.5191G= ENSP00000469689.2:p.Ala1731=
ENST00000606715.3:n.1943G=
NM_012309.4:c.5191G= NP_036441.2:p.Ala1731=
NM_133266.4:c.3427G= NP_573573.2:p.Ala1143=
NR_110766.1:n.1045G=
XM_005277930.2:c.5191G= XP_005277987.1:p.Ala1731=
XM_005277932.2:c.4054G= XP_005277989.1:p.Ala1352=
XM_006718478.2:c.5161G= XP_006718541.1:p.Ala1721=
XM_011544854.1:c.5203G= XP_011543156.1:p.Ala1735=
XM_011544855.1:c.5182G= XP_011543157.1:p.Ala1728=
XM_011544856.1:c.5176G= XP_011543158.1:p.Ala1726=
XM_011544857.1:c.5155G= XP_011543159.1:p.Ala1719=
XM_011544859.1:c.4066G= XP_011543161.1:p.Ala1356=
XM_005277932.3:c.4054G= XP_005277989.1:p.Ala1352=
XM_017017387.1:c.5191G= XP_016872876.1:p.Ala1731=
XM_017017388.1:c.5191G= XP_016872877.1:p.Ala1731=
XM_017017389.1:c.5164G= XP_016872878.1:p.Ala1722=
XM_017017390.1:c.3481G= XP_016872879.1:p.Ala1161=
NM_133266.5:c.3427G= NP_573573.2:p.Ala1143=
NR_110766.2:n.1046G=
NM_001379226.1:c.4054G= NP_001366155.1:p.Ala1352=
NM_012309.5:c.5191G= MANE Select NP_036441.2:p.Ala1731=