Canonical Allele Identifier: CA475470659
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319343A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473238A>G , CM000673.2:g.70473238A>G GRCh38
NC_000011.9:g.70319343A>G , CM000673.1:g.70319343A>G GRCh37
NC_000011.8:g.69996991A>G NCBI36
NG_042866.1:g.656559T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3414T>C ENSP00000345193.7:p.Ser1138=
ENST00000412252.6:c.959T>C ENSP00000414876.2:n.959T>C
ENST00000601538.6:c.5181T>C MANE Select ENSP00000469689.2:p.Ser1727=
ENST00000654939.1:c.2690T>C
ENST00000656230.1:c.4044T>C ENSP00000499561.1:p.Ser1348=
ENST00000659264.1:c.3471T>C ENSP00000499270.1:p.Ser1157=
ENST00000338508.8:c.3417T>C ENSP00000345193.6:p.Ser1139=
ENST00000357171.7:c.*185T>C ENSP00000349694.4:n.*185T>C
ENST00000409161.5:c.3393T>C ENSP00000386491.1:p.Ser1131=
ENST00000412252.5:c.957T>C
ENST00000423696.6:c.4044T>C ENSP00000394536.2:p.Ser1348=
ENST00000424924.5:c.3018T>C ENSP00000402944.1:p.Ser1006=
ENST00000449833.6:c.3417T>C ENSP00000399423.3:p.Ser1139=
ENST00000601538.5:c.5181T>C ENSP00000469689.2:p.Ser1727=
ENST00000606715.3:n.1933T>C
NM_012309.4:c.5181T>C NP_036441.2:p.Ser1727=
NM_133266.4:c.3417T>C NP_573573.2:p.Ser1139=
NR_110766.1:n.1035T>C
XM_005277930.2:c.5181T>C XP_005277987.1:p.Ser1727=
XM_005277932.2:c.4044T>C XP_005277989.1:p.Ser1348=
XM_006718478.2:c.5151T>C XP_006718541.1:p.Ser1717=
XM_011544854.1:c.5193T>C XP_011543156.1:p.Ser1731=
XM_011544855.1:c.5172T>C XP_011543157.1:p.Ser1724=
XM_011544856.1:c.5166T>C XP_011543158.1:p.Ser1722=
XM_011544857.1:c.5145T>C XP_011543159.1:p.Ser1715=
XM_011544859.1:c.4056T>C XP_011543161.1:p.Ser1352=
XM_005277932.3:c.4044T>C XP_005277989.1:p.Ser1348=
XM_017017387.1:c.5181T>C XP_016872876.1:p.Ser1727=
XM_017017388.1:c.5181T>C XP_016872877.1:p.Ser1727=
XM_017017389.1:c.5154T>C XP_016872878.1:p.Ser1718=
XM_017017390.1:c.3471T>C XP_016872879.1:p.Ser1157=
NM_133266.5:c.3417T>C NP_573573.2:p.Ser1139=
NR_110766.2:n.1036T>C
NM_001379226.1:c.4044T>C NP_001366155.1:p.Ser1348=
NM_012309.5:c.5181T>C MANE Select NP_036441.2:p.Ser1727=