Canonical Allele Identifier: CA475471167

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319262G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473157G>T , CM000673.2:g.70473157G>T	GRCh38
NC_000011.9:g.70319262G>T , CM000673.1:g.70319262G>T	GRCh37
NC_000011.8:g.69996910G>T	NCBI36
NG_042866.1:g.656640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3495C>A	ENSP00000345193.7:p.Gly1165=
ENST00000412252.6:c.1040C>A	ENSP00000414876.2:n.1040C>A
ENST00000601538.6:c.5262C>A MANE Select	ENSP00000469689.2:p.Gly1754=
ENST00000654939.1:c.2771C>A
ENST00000656230.1:c.4125C>A	ENSP00000499561.1:p.Gly1375=
ENST00000659264.1:c.3552C>A	ENSP00000499270.1:p.Gly1184=
ENST00000338508.8:c.3498C>A	ENSP00000345193.6:p.Gly1166=
ENST00000357171.7:c.*266C>A	ENSP00000349694.4:n.*266C>A
ENST00000409161.5:c.3474C>A	ENSP00000386491.1:p.Gly1158=
ENST00000412252.5:c.1038C>A
ENST00000423696.6:c.4125C>A	ENSP00000394536.2:p.Gly1375=
ENST00000424924.5:c.3099C>A	ENSP00000402944.1:p.Gly1033=
ENST00000449833.6:c.3498C>A	ENSP00000399423.3:p.Gly1166=
ENST00000601538.5:c.5262C>A	ENSP00000469689.2:p.Gly1754=
ENST00000606715.3:n.2014C>A
NM_012309.4:c.5262C>A	NP_036441.2:p.Gly1754=
NM_133266.4:c.3498C>A	NP_573573.2:p.Gly1166=
NR_110766.1:n.1116C>A
XM_005277930.2:c.5262C>A	XP_005277987.1:p.Gly1754=
XM_005277932.2:c.4125C>A	XP_005277989.1:p.Gly1375=
XM_006718478.2:c.5232C>A	XP_006718541.1:p.Gly1744=
XM_011544854.1:c.5274C>A	XP_011543156.1:p.Gly1758=
XM_011544855.1:c.5253C>A	XP_011543157.1:p.Gly1751=
XM_011544856.1:c.5247C>A	XP_011543158.1:p.Gly1749=
XM_011544857.1:c.5226C>A	XP_011543159.1:p.Gly1742=
XM_011544859.1:c.4137C>A	XP_011543161.1:p.Gly1379=
XM_005277932.3:c.4125C>A	XP_005277989.1:p.Gly1375=
XM_017017387.1:c.5262C>A	XP_016872876.1:p.Gly1754=
XM_017017388.1:c.5262C>A	XP_016872877.1:p.Gly1754=
XM_017017389.1:c.5235C>A	XP_016872878.1:p.Gly1745=
XM_017017390.1:c.3552C>A	XP_016872879.1:p.Gly1184=
NM_133266.5:c.3498C>A	NP_573573.2:p.Gly1166=
NR_110766.2:n.1117C>A
NM_001379226.1:c.4125C>A	NP_001366155.1:p.Gly1375=
NM_012309.5:c.5262C>A MANE Select	NP_036441.2:p.Gly1754=