Canonical Allele Identifier: CA1981067943
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473196A= , CM000673.2:g.70473196A= GRCh38
NC_000011.9:g.70319301A= , CM000673.1:g.70319301A= GRCh37
NC_000011.8:g.69996949A= NCBI36
NG_042866.1:g.656601T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3456T= ENSP00000345193.7:p.Phe1152=
ENST00000412252.6:c.1001T= ENSP00000414876.2:n.1001T=
ENST00000601538.6:c.5223T= MANE Select ENSP00000469689.2:p.Phe1741=
ENST00000654939.1:c.2732T=
ENST00000656230.1:c.4086T= ENSP00000499561.1:p.Phe1362=
ENST00000659264.1:c.3513T= ENSP00000499270.1:p.Phe1171=
ENST00000338508.8:c.3459T= ENSP00000345193.6:p.Phe1153=
ENST00000357171.7:c.*227T= ENSP00000349694.4:n.*227T=
ENST00000409161.5:c.3435T= ENSP00000386491.1:p.Phe1145=
ENST00000412252.5:c.999T=
ENST00000423696.6:c.4086T= ENSP00000394536.2:p.Phe1362=
ENST00000424924.5:c.3060T= ENSP00000402944.1:p.Phe1020=
ENST00000449833.6:c.3459T= ENSP00000399423.3:p.Phe1153=
ENST00000601538.5:c.5223T= ENSP00000469689.2:p.Phe1741=
ENST00000606715.3:n.1975T=
NM_012309.4:c.5223T= NP_036441.2:p.Phe1741=
NM_133266.4:c.3459T= NP_573573.2:p.Phe1153=
NR_110766.1:n.1077T=
XM_005277930.2:c.5223T= XP_005277987.1:p.Phe1741=
XM_005277932.2:c.4086T= XP_005277989.1:p.Phe1362=
XM_006718478.2:c.5193T= XP_006718541.1:p.Phe1731=
XM_011544854.1:c.5235T= XP_011543156.1:p.Phe1745=
XM_011544855.1:c.5214T= XP_011543157.1:p.Phe1738=
XM_011544856.1:c.5208T= XP_011543158.1:p.Phe1736=
XM_011544857.1:c.5187T= XP_011543159.1:p.Phe1729=
XM_011544859.1:c.4098T= XP_011543161.1:p.Phe1366=
XM_005277932.3:c.4086T= XP_005277989.1:p.Phe1362=
XM_017017387.1:c.5223T= XP_016872876.1:p.Phe1741=
XM_017017388.1:c.5223T= XP_016872877.1:p.Phe1741=
XM_017017389.1:c.5196T= XP_016872878.1:p.Phe1732=
XM_017017390.1:c.3513T= XP_016872879.1:p.Phe1171=
NM_133266.5:c.3459T= NP_573573.2:p.Phe1153=
NR_110766.2:n.1078T=
NM_001379226.1:c.4086T= NP_001366155.1:p.Phe1362=
NM_012309.5:c.5223T= MANE Select NP_036441.2:p.Phe1741=