Canonical Allele Identifier: CA475470637
Gene: SHANK2 HGNC NCBI

Linked Data

dbSNP Id: rs1565517076
MyVariant Identifiers: chr11:g.70319331G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473226G>C , CM000673.2:g.70473226G>C GRCh38
NC_000011.9:g.70319331G>C , CM000673.1:g.70319331G>C GRCh37
NC_000011.8:g.69996979G>C NCBI36
NG_042866.1:g.656571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3426C>G ENSP00000345193.7:p.Ala1142=
ENST00000412252.6:c.971C>G ENSP00000414876.2:n.971C>G
ENST00000601538.6:c.5193C>G MANE Select ENSP00000469689.2:p.Ala1731=
ENST00000654939.1:c.2702C>G
ENST00000656230.1:c.4056C>G ENSP00000499561.1:p.Ala1352=
ENST00000659264.1:c.3483C>G ENSP00000499270.1:p.Ala1161=
ENST00000338508.8:c.3429C>G ENSP00000345193.6:p.Ala1143=
ENST00000357171.7:c.*197C>G ENSP00000349694.4:n.*197C>G
ENST00000409161.5:c.3405C>G ENSP00000386491.1:p.Ala1135=
ENST00000412252.5:c.969C>G
ENST00000423696.6:c.4056C>G ENSP00000394536.2:p.Ala1352=
ENST00000424924.5:c.3030C>G ENSP00000402944.1:p.Ala1010=
ENST00000449833.6:c.3429C>G ENSP00000399423.3:p.Ala1143=
ENST00000601538.5:c.5193C>G ENSP00000469689.2:p.Ala1731=
ENST00000606715.3:n.1945C>G
NM_012309.4:c.5193C>G NP_036441.2:p.Ala1731=
NM_133266.4:c.3429C>G NP_573573.2:p.Ala1143=
NR_110766.1:n.1047C>G
XM_005277930.2:c.5193C>G XP_005277987.1:p.Ala1731=
XM_005277932.2:c.4056C>G XP_005277989.1:p.Ala1352=
XM_006718478.2:c.5163C>G XP_006718541.1:p.Ala1721=
XM_011544854.1:c.5205C>G XP_011543156.1:p.Ala1735=
XM_011544855.1:c.5184C>G XP_011543157.1:p.Ala1728=
XM_011544856.1:c.5178C>G XP_011543158.1:p.Ala1726=
XM_011544857.1:c.5157C>G XP_011543159.1:p.Ala1719=
XM_011544859.1:c.4068C>G XP_011543161.1:p.Ala1356=
XM_005277932.3:c.4056C>G XP_005277989.1:p.Ala1352=
XM_017017387.1:c.5193C>G XP_016872876.1:p.Ala1731=
XM_017017388.1:c.5193C>G XP_016872877.1:p.Ala1731=
XM_017017389.1:c.5166C>G XP_016872878.1:p.Ala1722=
XM_017017390.1:c.3483C>G XP_016872879.1:p.Ala1161=
NM_133266.5:c.3429C>G NP_573573.2:p.Ala1143=
NR_110766.2:n.1048C>G
NM_001379226.1:c.4056C>G NP_001366155.1:p.Ala1352=
NM_012309.5:c.5193C>G MANE Select NP_036441.2:p.Ala1731=