Canonical Allele Identifier: CA475470675
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319352G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473247G>C , CM000673.2:g.70473247G>C GRCh38
NC_000011.9:g.70319352G>C , CM000673.1:g.70319352G>C GRCh37
NC_000011.8:g.69997000G>C NCBI36
NG_042866.1:g.656550C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3405C>G ENSP00000345193.7:p.Ala1135=
ENST00000412252.6:c.950C>G ENSP00000414876.2:n.950C>G
ENST00000601538.6:c.5172C>G MANE Select ENSP00000469689.2:p.Ala1724=
ENST00000654939.1:c.2681C>G
ENST00000656230.1:c.4035C>G ENSP00000499561.1:p.Ala1345=
ENST00000659264.1:c.3462C>G ENSP00000499270.1:p.Ala1154=
ENST00000338508.8:c.3408C>G ENSP00000345193.6:p.Ala1136=
ENST00000357171.7:c.*176C>G ENSP00000349694.4:n.*176C>G
ENST00000409161.5:c.3384C>G ENSP00000386491.1:p.Ala1128=
ENST00000412252.5:c.948C>G
ENST00000423696.6:c.4035C>G ENSP00000394536.2:p.Ala1345=
ENST00000424924.5:c.3009C>G ENSP00000402944.1:p.Ala1003=
ENST00000449833.6:c.3408C>G ENSP00000399423.3:p.Ala1136=
ENST00000601538.5:c.5172C>G ENSP00000469689.2:p.Ala1724=
ENST00000606715.3:n.1924C>G
NM_012309.4:c.5172C>G NP_036441.2:p.Ala1724=
NM_133266.4:c.3408C>G NP_573573.2:p.Ala1136=
NR_110766.1:n.1026C>G
XM_005277930.2:c.5172C>G XP_005277987.1:p.Ala1724=
XM_005277932.2:c.4035C>G XP_005277989.1:p.Ala1345=
XM_006718478.2:c.5142C>G XP_006718541.1:p.Ala1714=
XM_011544854.1:c.5184C>G XP_011543156.1:p.Ala1728=
XM_011544855.1:c.5163C>G XP_011543157.1:p.Ala1721=
XM_011544856.1:c.5157C>G XP_011543158.1:p.Ala1719=
XM_011544857.1:c.5136C>G XP_011543159.1:p.Ala1712=
XM_011544859.1:c.4047C>G XP_011543161.1:p.Ala1349=
XM_005277932.3:c.4035C>G XP_005277989.1:p.Ala1345=
XM_017017387.1:c.5172C>G XP_016872876.1:p.Ala1724=
XM_017017388.1:c.5172C>G XP_016872877.1:p.Ala1724=
XM_017017389.1:c.5145C>G XP_016872878.1:p.Ala1715=
XM_017017390.1:c.3462C>G XP_016872879.1:p.Ala1154=
NM_133266.5:c.3408C>G NP_573573.2:p.Ala1136=
NR_110766.2:n.1027C>G
NM_001379226.1:c.4035C>G NP_001366155.1:p.Ala1345=
NM_012309.5:c.5172C>G MANE Select NP_036441.2:p.Ala1724=