Canonical Allele Identifier: CA381683085

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70486018-A-T
• MyVariant Identifiers: chr11:g.70332123A>T (hg19) ; chr11:g.70486018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486018A>T , CM000673.2:g.70486018A>T	GRCh38
NC_000011.9:g.70332123A>T , CM000673.1:g.70332123A>T	GRCh37
NC_000011.8:g.70009771A>T	NCBI36
NG_042866.1:g.643779T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2508T>A	ENSP00000345193.7:p.Asp836Glu
ENST00000412252.6:c.757+4285T>A	ENSP00000414876.2:n.757+4285T>A
ENST00000601538.6:c.4275T>A MANE Select	ENSP00000469689.2:p.Asp1425Glu
ENST00000654939.1:c.1703T>A
ENST00000656230.1:c.3138T>A	ENSP00000499561.1:p.Asp1046Glu
ENST00000659264.1:c.2565T>A	ENSP00000499270.1:p.Asp855Glu
ENST00000338508.8:c.2511T>A	ENSP00000345193.6:p.Asp837Glu
ENST00000357171.7:c.718+4285T>A	ENSP00000349694.4:n.718+4285T>A
ENST00000409161.5:c.2487T>A	ENSP00000386491.1:p.Asp829Glu
ENST00000412252.5:c.755+4285T>A
ENST00000423696.6:c.3138T>A	ENSP00000394536.2:p.Asp1046Glu
ENST00000424924.5:c.2112T>A	ENSP00000402944.1:p.Asp704Glu
ENST00000449833.6:c.2511T>A	ENSP00000399423.3:p.Asp837Glu
ENST00000601538.5:c.4275T>A	ENSP00000469689.2:p.Asp1425Glu
NM_012309.4:c.4275T>A	NP_036441.2:p.Asp1425Glu
NM_133266.4:c.2511T>A	NP_573573.2:p.Asp837Glu
NR_110766.1:n.833+4285T>A
XM_005277930.2:c.4275T>A	XP_005277987.1:p.Asp1425Glu
XM_005277932.2:c.3138T>A	XP_005277989.1:p.Asp1046Glu
XM_006718478.2:c.4245T>A	XP_006718541.1:p.Asp1415Glu
XM_011544854.1:c.4287T>A	XP_011543156.1:p.Asp1429Glu
XM_011544855.1:c.4266T>A	XP_011543157.1:p.Asp1422Glu
XM_011544856.1:c.4260T>A	XP_011543158.1:p.Asp1420Glu
XM_011544857.1:c.4239T>A	XP_011543159.1:p.Asp1413Glu
XM_011544858.1:c.4287T>A	XP_011543160.1:p.Asp1429Glu
XM_011544859.1:c.3150T>A	XP_011543161.1:p.Asp1050Glu
XM_005277932.3:c.3138T>A	XP_005277989.1:p.Asp1046Glu
XM_017017387.1:c.4275T>A	XP_016872876.1:p.Asp1425Glu
XM_017017388.1:c.4275T>A	XP_016872877.1:p.Asp1425Glu
XM_017017389.1:c.4248T>A	XP_016872878.1:p.Asp1416Glu
XM_017017390.1:c.2565T>A	XP_016872879.1:p.Asp855Glu
NM_133266.5:c.2511T>A	NP_573573.2:p.Asp837Glu
NR_110766.2:n.834+4285T>A
NM_001379226.1:c.3138T>A	NP_001366155.1:p.Asp1046Glu
NM_012309.5:c.4275T>A MANE Select	NP_036441.2:p.Asp1425Glu