Canonical Allele Identifier: CA1981067953
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473221G= , CM000673.2:g.70473221G= GRCh38
NC_000011.9:g.70319326G= , CM000673.1:g.70319326G= GRCh37
NC_000011.8:g.69996974G= NCBI36
NG_042866.1:g.656576C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3431C= ENSP00000345193.7:p.Pro1144=
ENST00000412252.6:c.976C= ENSP00000414876.2:n.976C=
ENST00000601538.6:c.5198C= MANE Select ENSP00000469689.2:p.Pro1733=
ENST00000654939.1:c.2707C=
ENST00000656230.1:c.4061C= ENSP00000499561.1:p.Pro1354=
ENST00000659264.1:c.3488C= ENSP00000499270.1:p.Pro1163=
ENST00000338508.8:c.3434C= ENSP00000345193.6:p.Pro1145=
ENST00000357171.7:c.*202C= ENSP00000349694.4:n.*202C=
ENST00000409161.5:c.3410C= ENSP00000386491.1:p.Pro1137=
ENST00000412252.5:c.974C=
ENST00000423696.6:c.4061C= ENSP00000394536.2:p.Pro1354=
ENST00000424924.5:c.3035C= ENSP00000402944.1:p.Pro1012=
ENST00000449833.6:c.3434C= ENSP00000399423.3:p.Pro1145=
ENST00000601538.5:c.5198C= ENSP00000469689.2:p.Pro1733=
ENST00000606715.3:n.1950C=
NM_012309.4:c.5198C= NP_036441.2:p.Pro1733=
NM_133266.4:c.3434C= NP_573573.2:p.Pro1145=
NR_110766.1:n.1052C=
XM_005277930.2:c.5198C= XP_005277987.1:p.Pro1733=
XM_005277932.2:c.4061C= XP_005277989.1:p.Pro1354=
XM_006718478.2:c.5168C= XP_006718541.1:p.Pro1723=
XM_011544854.1:c.5210C= XP_011543156.1:p.Pro1737=
XM_011544855.1:c.5189C= XP_011543157.1:p.Pro1730=
XM_011544856.1:c.5183C= XP_011543158.1:p.Pro1728=
XM_011544857.1:c.5162C= XP_011543159.1:p.Pro1721=
XM_011544859.1:c.4073C= XP_011543161.1:p.Pro1358=
XM_005277932.3:c.4061C= XP_005277989.1:p.Pro1354=
XM_017017387.1:c.5198C= XP_016872876.1:p.Pro1733=
XM_017017388.1:c.5198C= XP_016872877.1:p.Pro1733=
XM_017017389.1:c.5171C= XP_016872878.1:p.Pro1724=
XM_017017390.1:c.3488C= XP_016872879.1:p.Pro1163=
NM_133266.5:c.3434C= NP_573573.2:p.Pro1145=
NR_110766.2:n.1053C=
NM_001379226.1:c.4061C= NP_001366155.1:p.Pro1354=
NM_012309.5:c.5198C= MANE Select NP_036441.2:p.Pro1733=