Canonical Allele Identifier: CA6160730

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 3025398
• ClinVar RCV Id: RCV003886274
• dbSNP Id: rs200232277
• ExAC: 11:70319250 C / T
• gnomAD v2: 11-70319250-C-T
• gnomAD v3: 11-70473145-C-T
• gnomAD v4: 11-70473145-C-T
• COSMIC: COSM931490 ; COSM931491
• MyVariant Identifiers: chr11:g.70319250C>T (hg19) ; chr11:g.70473145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473145C>T , CM000673.2:g.70473145C>T	GRCh38
NC_000011.9:g.70319250C>T , CM000673.1:g.70319250C>T	GRCh37
NC_000011.8:g.69996898C>T	NCBI36
NG_042866.1:g.656652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3507G>A	ENSP00000345193.7:p.Ala1169=
ENST00000412252.6:c.1052G>A	ENSP00000414876.2:n.1052G>A
ENST00000601538.6:c.5274G>A MANE Select	ENSP00000469689.2:p.Ala1758=
ENST00000654939.1:c.2783G>A
ENST00000656230.1:c.4137G>A	ENSP00000499561.1:p.Ala1379=
ENST00000659264.1:c.3564G>A	ENSP00000499270.1:p.Ala1188=
ENST00000338508.8:c.3510G>A	ENSP00000345193.6:p.Ala1170=
ENST00000357171.7:c.*278G>A	ENSP00000349694.4:n.*278G>A
ENST00000409161.5:c.3486G>A	ENSP00000386491.1:p.Ala1162=
ENST00000412252.5:c.1050G>A
ENST00000423696.6:c.4137G>A	ENSP00000394536.2:p.Ala1379=
ENST00000424924.5:c.3111G>A	ENSP00000402944.1:p.Ala1037=
ENST00000449833.6:c.3510G>A	ENSP00000399423.3:p.Ala1170=
ENST00000601538.5:c.5274G>A	ENSP00000469689.2:p.Ala1758=
ENST00000606715.3:n.2026G>A
NM_012309.4:c.5274G>A	NP_036441.2:p.Ala1758=
NM_133266.4:c.3510G>A	NP_573573.2:p.Ala1170=
NR_110766.1:n.1128G>A
XM_005277930.2:c.5274G>A	XP_005277987.1:p.Ala1758=
XM_005277932.2:c.4137G>A	XP_005277989.1:p.Ala1379=
XM_006718478.2:c.5244G>A	XP_006718541.1:p.Ala1748=
XM_011544854.1:c.5286G>A	XP_011543156.1:p.Ala1762=
XM_011544855.1:c.5265G>A	XP_011543157.1:p.Ala1755=
XM_011544856.1:c.5259G>A	XP_011543158.1:p.Ala1753=
XM_011544857.1:c.5238G>A	XP_011543159.1:p.Ala1746=
XM_011544859.1:c.4149G>A	XP_011543161.1:p.Ala1383=
XM_005277932.3:c.4137G>A	XP_005277989.1:p.Ala1379=
XM_017017387.1:c.5274G>A	XP_016872876.1:p.Ala1758=
XM_017017388.1:c.5274G>A	XP_016872877.1:p.Ala1758=
XM_017017389.1:c.5247G>A	XP_016872878.1:p.Ala1749=
XM_017017390.1:c.3564G>A	XP_016872879.1:p.Ala1188=
NM_133266.5:c.3510G>A	NP_573573.2:p.Ala1170=
NR_110766.2:n.1129G>A
NM_001379226.1:c.4137G>A	NP_001366155.1:p.Ala1379=
NM_012309.5:c.5274G>A MANE Select	NP_036441.2:p.Ala1758=