Canonical Allele Identifier: CA475470635
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319328A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473223A>G , CM000673.2:g.70473223A>G GRCh38
NC_000011.9:g.70319328A>G , CM000673.1:g.70319328A>G GRCh37
NC_000011.8:g.69996976A>G NCBI36
NG_042866.1:g.656574T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3429T>C ENSP00000345193.7:p.Ser1143=
ENST00000412252.6:c.974T>C ENSP00000414876.2:n.974T>C
ENST00000601538.6:c.5196T>C MANE Select ENSP00000469689.2:p.Ser1732=
ENST00000654939.1:c.2705T>C
ENST00000656230.1:c.4059T>C ENSP00000499561.1:p.Ser1353=
ENST00000659264.1:c.3486T>C ENSP00000499270.1:p.Ser1162=
ENST00000338508.8:c.3432T>C ENSP00000345193.6:p.Ser1144=
ENST00000357171.7:c.*200T>C ENSP00000349694.4:n.*200T>C
ENST00000409161.5:c.3408T>C ENSP00000386491.1:p.Ser1136=
ENST00000412252.5:c.972T>C
ENST00000423696.6:c.4059T>C ENSP00000394536.2:p.Ser1353=
ENST00000424924.5:c.3033T>C ENSP00000402944.1:p.Ser1011=
ENST00000449833.6:c.3432T>C ENSP00000399423.3:p.Ser1144=
ENST00000601538.5:c.5196T>C ENSP00000469689.2:p.Ser1732=
ENST00000606715.3:n.1948T>C
NM_012309.4:c.5196T>C NP_036441.2:p.Ser1732=
NM_133266.4:c.3432T>C NP_573573.2:p.Ser1144=
NR_110766.1:n.1050T>C
XM_005277930.2:c.5196T>C XP_005277987.1:p.Ser1732=
XM_005277932.2:c.4059T>C XP_005277989.1:p.Ser1353=
XM_006718478.2:c.5166T>C XP_006718541.1:p.Ser1722=
XM_011544854.1:c.5208T>C XP_011543156.1:p.Ser1736=
XM_011544855.1:c.5187T>C XP_011543157.1:p.Ser1729=
XM_011544856.1:c.5181T>C XP_011543158.1:p.Ser1727=
XM_011544857.1:c.5160T>C XP_011543159.1:p.Ser1720=
XM_011544859.1:c.4071T>C XP_011543161.1:p.Ser1357=
XM_005277932.3:c.4059T>C XP_005277989.1:p.Ser1353=
XM_017017387.1:c.5196T>C XP_016872876.1:p.Ser1732=
XM_017017388.1:c.5196T>C XP_016872877.1:p.Ser1732=
XM_017017389.1:c.5169T>C XP_016872878.1:p.Ser1723=
XM_017017390.1:c.3486T>C XP_016872879.1:p.Ser1162=
NM_133266.5:c.3432T>C NP_573573.2:p.Ser1144=
NR_110766.2:n.1051T>C
NM_001379226.1:c.4059T>C NP_001366155.1:p.Ser1353=
NM_012309.5:c.5196T>C MANE Select NP_036441.2:p.Ser1732=