Canonical Allele Identifier: CA475470847
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319514A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473409A>C , CM000673.2:g.70473409A>C GRCh38
NC_000011.9:g.70319514A>C , CM000673.1:g.70319514A>C GRCh37
NC_000011.8:g.69997162A>C NCBI36
NG_042866.1:g.656388T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3243T>G ENSP00000345193.7:p.Gly1081=
ENST00000412252.6:c.788T>G ENSP00000414876.2:n.788T>G
ENST00000601538.6:c.5010T>G MANE Select ENSP00000469689.2:p.Gly1670=
ENST00000654939.1:c.2519T>G
ENST00000656230.1:c.3873T>G ENSP00000499561.1:p.Gly1291=
ENST00000659264.1:c.3300T>G ENSP00000499270.1:p.Gly1100=
ENST00000338508.8:c.3246T>G ENSP00000345193.6:p.Gly1082=
ENST00000357171.7:c.*14T>G ENSP00000349694.4:n.*14T>G
ENST00000409161.5:c.3222T>G ENSP00000386491.1:p.Gly1074=
ENST00000412252.5:c.786T>G
ENST00000423696.6:c.3873T>G ENSP00000394536.2:p.Gly1291=
ENST00000424924.5:c.2847T>G ENSP00000402944.1:p.Gly949=
ENST00000449833.6:c.3246T>G ENSP00000399423.3:p.Gly1082=
ENST00000601538.5:c.5010T>G ENSP00000469689.2:p.Gly1670=
ENST00000606715.3:n.1762T>G
NM_012309.4:c.5010T>G NP_036441.2:p.Gly1670=
NM_133266.4:c.3246T>G NP_573573.2:p.Gly1082=
NR_110766.1:n.864T>G
XM_005277930.2:c.5010T>G XP_005277987.1:p.Gly1670=
XM_005277932.2:c.3873T>G XP_005277989.1:p.Gly1291=
XM_006718478.2:c.4980T>G XP_006718541.1:p.Gly1660=
XM_011544854.1:c.5022T>G XP_011543156.1:p.Gly1674=
XM_011544855.1:c.5001T>G XP_011543157.1:p.Gly1667=
XM_011544856.1:c.4995T>G XP_011543158.1:p.Gly1665=
XM_011544857.1:c.4974T>G XP_011543159.1:p.Gly1658=
XM_011544859.1:c.3885T>G XP_011543161.1:p.Gly1295=
XM_005277932.3:c.3873T>G XP_005277989.1:p.Gly1291=
XM_017017387.1:c.5010T>G XP_016872876.1:p.Gly1670=
XM_017017388.1:c.5010T>G XP_016872877.1:p.Gly1670=
XM_017017389.1:c.4983T>G XP_016872878.1:p.Gly1661=
XM_017017390.1:c.3300T>G XP_016872879.1:p.Gly1100=
NM_133266.5:c.3246T>G NP_573573.2:p.Gly1082=
NR_110766.2:n.865T>G
NM_001379226.1:c.3873T>G NP_001366155.1:p.Gly1291=
NM_012309.5:c.5010T>G MANE Select NP_036441.2:p.Gly1670=