Canonical Allele Identifier: CA1981068025
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473366A= , CM000673.2:g.70473366A= GRCh38
NC_000011.9:g.70319471A= , CM000673.1:g.70319471A= GRCh37
NC_000011.8:g.69997119A= NCBI36
NG_042866.1:g.656431T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3286T= ENSP00000345193.7:p.Ser1096=
ENST00000412252.6:c.831T= ENSP00000414876.2:n.831T=
ENST00000601538.6:c.5053T= MANE Select ENSP00000469689.2:p.Ser1685=
ENST00000654939.1:c.2562T=
ENST00000656230.1:c.3916T= ENSP00000499561.1:p.Ser1306=
ENST00000659264.1:c.3343T= ENSP00000499270.1:p.Ser1115=
ENST00000338508.8:c.3289T= ENSP00000345193.6:p.Ser1097=
ENST00000357171.7:c.*57T= ENSP00000349694.4:n.*57T=
ENST00000409161.5:c.3265T= ENSP00000386491.1:p.Ser1089=
ENST00000412252.5:c.829T=
ENST00000423696.6:c.3916T= ENSP00000394536.2:p.Ser1306=
ENST00000424924.5:c.2890T= ENSP00000402944.1:p.Ser964=
ENST00000449833.6:c.3289T= ENSP00000399423.3:p.Ser1097=
ENST00000601538.5:c.5053T= ENSP00000469689.2:p.Ser1685=
ENST00000606715.3:n.1805T=
NM_012309.4:c.5053T= NP_036441.2:p.Ser1685=
NM_133266.4:c.3289T= NP_573573.2:p.Ser1097=
NR_110766.1:n.907T=
XM_005277930.2:c.5053T= XP_005277987.1:p.Ser1685=
XM_005277932.2:c.3916T= XP_005277989.1:p.Ser1306=
XM_006718478.2:c.5023T= XP_006718541.1:p.Ser1675=
XM_011544854.1:c.5065T= XP_011543156.1:p.Ser1689=
XM_011544855.1:c.5044T= XP_011543157.1:p.Ser1682=
XM_011544856.1:c.5038T= XP_011543158.1:p.Ser1680=
XM_011544857.1:c.5017T= XP_011543159.1:p.Ser1673=
XM_011544859.1:c.3928T= XP_011543161.1:p.Ser1310=
XM_005277932.3:c.3916T= XP_005277989.1:p.Ser1306=
XM_017017387.1:c.5053T= XP_016872876.1:p.Ser1685=
XM_017017388.1:c.5053T= XP_016872877.1:p.Ser1685=
XM_017017389.1:c.5026T= XP_016872878.1:p.Ser1676=
XM_017017390.1:c.3343T= XP_016872879.1:p.Ser1115=
NM_133266.5:c.3289T= NP_573573.2:p.Ser1097=
NR_110766.2:n.908T=
NM_001379226.1:c.3916T= NP_001366155.1:p.Ser1306=
NM_012309.5:c.5053T= MANE Select NP_036441.2:p.Ser1685=