Canonical Allele Identifier: CA1981068044
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473401C= , CM000673.2:g.70473401C= GRCh38
NC_000011.9:g.70319506C= , CM000673.1:g.70319506C= GRCh37
NC_000011.8:g.69997154C= NCBI36
NG_042866.1:g.656396G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3251G= ENSP00000345193.7:p.Ser1084=
ENST00000412252.6:c.796G= ENSP00000414876.2:n.796G=
ENST00000601538.6:c.5018G= MANE Select ENSP00000469689.2:p.Ser1673=
ENST00000654939.1:c.2527G=
ENST00000656230.1:c.3881G= ENSP00000499561.1:p.Ser1294=
ENST00000659264.1:c.3308G= ENSP00000499270.1:p.Ser1103=
ENST00000338508.8:c.3254G= ENSP00000345193.6:p.Ser1085=
ENST00000357171.7:c.*22G= ENSP00000349694.4:n.*22G=
ENST00000409161.5:c.3230G= ENSP00000386491.1:p.Ser1077=
ENST00000412252.5:c.794G=
ENST00000423696.6:c.3881G= ENSP00000394536.2:p.Ser1294=
ENST00000424924.5:c.2855G= ENSP00000402944.1:p.Ser952=
ENST00000449833.6:c.3254G= ENSP00000399423.3:p.Ser1085=
ENST00000601538.5:c.5018G= ENSP00000469689.2:p.Ser1673=
ENST00000606715.3:n.1770G=
NM_012309.4:c.5018G= NP_036441.2:p.Ser1673=
NM_133266.4:c.3254G= NP_573573.2:p.Ser1085=
NR_110766.1:n.872G=
XM_005277930.2:c.5018G= XP_005277987.1:p.Ser1673=
XM_005277932.2:c.3881G= XP_005277989.1:p.Ser1294=
XM_006718478.2:c.4988G= XP_006718541.1:p.Ser1663=
XM_011544854.1:c.5030G= XP_011543156.1:p.Ser1677=
XM_011544855.1:c.5009G= XP_011543157.1:p.Ser1670=
XM_011544856.1:c.5003G= XP_011543158.1:p.Ser1668=
XM_011544857.1:c.4982G= XP_011543159.1:p.Ser1661=
XM_011544859.1:c.3893G= XP_011543161.1:p.Ser1298=
XM_005277932.3:c.3881G= XP_005277989.1:p.Ser1294=
XM_017017387.1:c.5018G= XP_016872876.1:p.Ser1673=
XM_017017388.1:c.5018G= XP_016872877.1:p.Ser1673=
XM_017017389.1:c.4991G= XP_016872878.1:p.Ser1664=
XM_017017390.1:c.3308G= XP_016872879.1:p.Ser1103=
NM_133266.5:c.3254G= NP_573573.2:p.Ser1085=
NR_110766.2:n.873G=
NM_001379226.1:c.3881G= NP_001366155.1:p.Ser1294=
NM_012309.5:c.5018G= MANE Select NP_036441.2:p.Ser1673=