Canonical Allele Identifier: CA475471146

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319247T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473142T>C , CM000673.2:g.70473142T>C	GRCh38
NC_000011.9:g.70319247T>C , CM000673.1:g.70319247T>C	GRCh37
NC_000011.8:g.69996895T>C	NCBI36
NG_042866.1:g.656655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3510A>G	ENSP00000345193.7:p.Gly1170=
ENST00000412252.6:c.1055A>G	ENSP00000414876.2:n.1055A>G
ENST00000601538.6:c.5277A>G MANE Select	ENSP00000469689.2:p.Gly1759=
ENST00000654939.1:c.2786A>G
ENST00000656230.1:c.4140A>G	ENSP00000499561.1:p.Gly1380=
ENST00000659264.1:c.3567A>G	ENSP00000499270.1:p.Gly1189=
ENST00000338508.8:c.3513A>G	ENSP00000345193.6:p.Gly1171=
ENST00000357171.7:c.*281A>G	ENSP00000349694.4:n.*281A>G
ENST00000409161.5:c.3489A>G	ENSP00000386491.1:p.Gly1163=
ENST00000412252.5:c.1053A>G
ENST00000423696.6:c.4140A>G	ENSP00000394536.2:p.Gly1380=
ENST00000424924.5:c.3114A>G	ENSP00000402944.1:p.Gly1038=
ENST00000449833.6:c.3513A>G	ENSP00000399423.3:p.Gly1171=
ENST00000601538.5:c.5277A>G	ENSP00000469689.2:p.Gly1759=
ENST00000606715.3:n.2029A>G
NM_012309.4:c.5277A>G	NP_036441.2:p.Gly1759=
NM_133266.4:c.3513A>G	NP_573573.2:p.Gly1171=
NR_110766.1:n.1131A>G
XM_005277930.2:c.5277A>G	XP_005277987.1:p.Gly1759=
XM_005277932.2:c.4140A>G	XP_005277989.1:p.Gly1380=
XM_006718478.2:c.5247A>G	XP_006718541.1:p.Gly1749=
XM_011544854.1:c.5289A>G	XP_011543156.1:p.Gly1763=
XM_011544855.1:c.5268A>G	XP_011543157.1:p.Gly1756=
XM_011544856.1:c.5262A>G	XP_011543158.1:p.Gly1754=
XM_011544857.1:c.5241A>G	XP_011543159.1:p.Gly1747=
XM_011544859.1:c.4152A>G	XP_011543161.1:p.Gly1384=
XM_005277932.3:c.4140A>G	XP_005277989.1:p.Gly1380=
XM_017017387.1:c.5277A>G	XP_016872876.1:p.Gly1759=
XM_017017388.1:c.5277A>G	XP_016872877.1:p.Gly1759=
XM_017017389.1:c.5250A>G	XP_016872878.1:p.Gly1750=
XM_017017390.1:c.3567A>G	XP_016872879.1:p.Gly1189=
NM_133266.5:c.3513A>G	NP_573573.2:p.Gly1171=
NR_110766.2:n.1132A>G
NM_001379226.1:c.4140A>G	NP_001366155.1:p.Gly1380=
NM_012309.5:c.5277A>G MANE Select	NP_036441.2:p.Gly1759=