Canonical Allele Identifier: CA381676267

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319365T>A (hg19) ; chr11:g.70473260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473260T>A , CM000673.2:g.70473260T>A	GRCh38
NC_000011.9:g.70319365T>A , CM000673.1:g.70319365T>A	GRCh37
NC_000011.8:g.69997013T>A	NCBI36
NG_042866.1:g.656537A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3392A>T	ENSP00000345193.7:p.Glu1131Val
ENST00000412252.6:c.937A>T	ENSP00000414876.2:n.937A>T
ENST00000601538.6:c.5159A>T MANE Select	ENSP00000469689.2:p.Glu1720Val
ENST00000654939.1:c.2668A>T
ENST00000656230.1:c.4022A>T	ENSP00000499561.1:p.Glu1341Val
ENST00000659264.1:c.3449A>T	ENSP00000499270.1:p.Glu1150Val
ENST00000338508.8:c.3395A>T	ENSP00000345193.6:p.Glu1132Val
ENST00000357171.7:c.*163A>T	ENSP00000349694.4:n.*163A>T
ENST00000409161.5:c.3371A>T	ENSP00000386491.1:p.Glu1124Val
ENST00000412252.5:c.935A>T
ENST00000423696.6:c.4022A>T	ENSP00000394536.2:p.Glu1341Val
ENST00000424924.5:c.2996A>T	ENSP00000402944.1:p.Glu999Val
ENST00000449833.6:c.3395A>T	ENSP00000399423.3:p.Glu1132Val
ENST00000601538.5:c.5159A>T	ENSP00000469689.2:p.Glu1720Val
ENST00000606715.3:n.1911A>T
NM_012309.4:c.5159A>T	NP_036441.2:p.Glu1720Val
NM_133266.4:c.3395A>T	NP_573573.2:p.Glu1132Val
NR_110766.1:n.1013A>T
XM_005277930.2:c.5159A>T	XP_005277987.1:p.Glu1720Val
XM_005277932.2:c.4022A>T	XP_005277989.1:p.Glu1341Val
XM_006718478.2:c.5129A>T	XP_006718541.1:p.Glu1710Val
XM_011544854.1:c.5171A>T	XP_011543156.1:p.Glu1724Val
XM_011544855.1:c.5150A>T	XP_011543157.1:p.Glu1717Val
XM_011544856.1:c.5144A>T	XP_011543158.1:p.Glu1715Val
XM_011544857.1:c.5123A>T	XP_011543159.1:p.Glu1708Val
XM_011544859.1:c.4034A>T	XP_011543161.1:p.Glu1345Val
XM_005277932.3:c.4022A>T	XP_005277989.1:p.Glu1341Val
XM_017017387.1:c.5159A>T	XP_016872876.1:p.Glu1720Val
XM_017017388.1:c.5159A>T	XP_016872877.1:p.Glu1720Val
XM_017017389.1:c.5132A>T	XP_016872878.1:p.Glu1711Val
XM_017017390.1:c.3449A>T	XP_016872879.1:p.Glu1150Val
NM_133266.5:c.3395A>T	NP_573573.2:p.Glu1132Val
NR_110766.2:n.1014A>T
NM_001379226.1:c.4022A>T	NP_001366155.1:p.Glu1341Val
NM_012309.5:c.5159A>T MANE Select	NP_036441.2:p.Glu1720Val