Canonical Allele Identifier: CA6160734

Gene: SHANK2

Linked Data

• dbSNP Id: rs782688658
• ExAC: 11:70319273 C / T
• gnomAD v2: 11-70319273-C-T
• gnomAD v4: 11-70473168-C-T
• COSMIC: COSM2044051 ; COSM2044052 ; COSM4200405
• MyVariant Identifiers: chr11:g.70319273C>T (hg19) ; chr11:g.70473168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473168C>T , CM000673.2:g.70473168C>T	GRCh38
NC_000011.9:g.70319273C>T , CM000673.1:g.70319273C>T	GRCh37
NC_000011.8:g.69996921C>T	NCBI36
NG_042866.1:g.656629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3484G>A	ENSP00000345193.7:p.Asp1162Asn
ENST00000412252.6:c.1029G>A	ENSP00000414876.2:n.1029G>A
ENST00000601538.6:c.5251G>A MANE Select	ENSP00000469689.2:p.Asp1751Asn
ENST00000654939.1:c.2760G>A
ENST00000656230.1:c.4114G>A	ENSP00000499561.1:p.Asp1372Asn
ENST00000659264.1:c.3541G>A	ENSP00000499270.1:p.Asp1181Asn
ENST00000338508.8:c.3487G>A	ENSP00000345193.6:p.Asp1163Asn
ENST00000357171.7:c.*255G>A	ENSP00000349694.4:n.*255G>A
ENST00000409161.5:c.3463G>A	ENSP00000386491.1:p.Asp1155Asn
ENST00000412252.5:c.1027G>A
ENST00000423696.6:c.4114G>A	ENSP00000394536.2:p.Asp1372Asn
ENST00000424924.5:c.3088G>A	ENSP00000402944.1:p.Asp1030Asn
ENST00000449833.6:c.3487G>A	ENSP00000399423.3:p.Asp1163Asn
ENST00000601538.5:c.5251G>A	ENSP00000469689.2:p.Asp1751Asn
ENST00000606715.3:n.2003G>A
NM_012309.4:c.5251G>A	NP_036441.2:p.Asp1751Asn
NM_133266.4:c.3487G>A	NP_573573.2:p.Asp1163Asn
NR_110766.1:n.1105G>A
XM_005277930.2:c.5251G>A	XP_005277987.1:p.Asp1751Asn
XM_005277932.2:c.4114G>A	XP_005277989.1:p.Asp1372Asn
XM_006718478.2:c.5221G>A	XP_006718541.1:p.Asp1741Asn
XM_011544854.1:c.5263G>A	XP_011543156.1:p.Asp1755Asn
XM_011544855.1:c.5242G>A	XP_011543157.1:p.Asp1748Asn
XM_011544856.1:c.5236G>A	XP_011543158.1:p.Asp1746Asn
XM_011544857.1:c.5215G>A	XP_011543159.1:p.Asp1739Asn
XM_011544859.1:c.4126G>A	XP_011543161.1:p.Asp1376Asn
XM_005277932.3:c.4114G>A	XP_005277989.1:p.Asp1372Asn
XM_017017387.1:c.5251G>A	XP_016872876.1:p.Asp1751Asn
XM_017017388.1:c.5251G>A	XP_016872877.1:p.Asp1751Asn
XM_017017389.1:c.5224G>A	XP_016872878.1:p.Asp1742Asn
XM_017017390.1:c.3541G>A	XP_016872879.1:p.Asp1181Asn
NM_133266.5:c.3487G>A	NP_573573.2:p.Asp1163Asn
NR_110766.2:n.1106G>A
NM_001379226.1:c.4114G>A	NP_001366155.1:p.Asp1372Asn
NM_012309.5:c.5251G>A MANE Select	NP_036441.2:p.Asp1751Asn