Canonical Allele Identifier: CA6160726

Gene: SHANK2

Linked Data

• dbSNP Id: rs782033372
• ExAC: 11:70319235 C / T
• gnomAD v2: 11-70319235-C-T
• gnomAD v3: 11-70473130-C-T
• gnomAD v4: 11-70473130-C-T
• COSMIC: COSM3398108 ; COSM3398109 ; COSM4725774
• MyVariant Identifiers: chr11:g.70319235C>T (hg19) ; chr11:g.70473130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473130C>T , CM000673.2:g.70473130C>T	GRCh38
NC_000011.9:g.70319235C>T , CM000673.1:g.70319235C>T	GRCh37
NC_000011.8:g.69996883C>T	NCBI36
NG_042866.1:g.656667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3522G>A	ENSP00000345193.7:p.Ser1174=
ENST00000412252.6:c.1067G>A	ENSP00000414876.2:n.1067G>A
ENST00000601538.6:c.5289G>A MANE Select	ENSP00000469689.2:p.Ser1763=
ENST00000654939.1:c.2798G>A
ENST00000656230.1:c.4152G>A	ENSP00000499561.1:p.Ser1384=
ENST00000659264.1:c.3579G>A	ENSP00000499270.1:p.Ser1193=
ENST00000338508.8:c.3525G>A	ENSP00000345193.6:p.Ser1175=
ENST00000357171.7:c.*293G>A	ENSP00000349694.4:n.*293G>A
ENST00000409161.5:c.3501G>A	ENSP00000386491.1:p.Ser1167=
ENST00000412252.5:c.1065G>A
ENST00000423696.6:c.4152G>A	ENSP00000394536.2:p.Ser1384=
ENST00000424924.5:c.3126G>A	ENSP00000402944.1:p.Ser1042=
ENST00000449833.6:c.3525G>A	ENSP00000399423.3:p.Ser1175=
ENST00000601538.5:c.5289G>A	ENSP00000469689.2:p.Ser1763=
ENST00000606715.3:n.2041G>A
NM_012309.4:c.5289G>A	NP_036441.2:p.Ser1763=
NM_133266.4:c.3525G>A	NP_573573.2:p.Ser1175=
NR_110766.1:n.1143G>A
XM_005277930.2:c.5289G>A	XP_005277987.1:p.Ser1763=
XM_005277932.2:c.4152G>A	XP_005277989.1:p.Ser1384=
XM_006718478.2:c.5259G>A	XP_006718541.1:p.Ser1753=
XM_011544854.1:c.5301G>A	XP_011543156.1:p.Ser1767=
XM_011544855.1:c.5280G>A	XP_011543157.1:p.Ser1760=
XM_011544856.1:c.5274G>A	XP_011543158.1:p.Ser1758=
XM_011544857.1:c.5253G>A	XP_011543159.1:p.Ser1751=
XM_011544859.1:c.4164G>A	XP_011543161.1:p.Ser1388=
XM_005277932.3:c.4152G>A	XP_005277989.1:p.Ser1384=
XM_017017387.1:c.5289G>A	XP_016872876.1:p.Ser1763=
XM_017017388.1:c.5289G>A	XP_016872877.1:p.Ser1763=
XM_017017389.1:c.5262G>A	XP_016872878.1:p.Ser1754=
XM_017017390.1:c.3579G>A	XP_016872879.1:p.Ser1193=
NM_133266.5:c.3525G>A	NP_573573.2:p.Ser1175=
NR_110766.2:n.1144G>A
NM_001379226.1:c.4152G>A	NP_001366155.1:p.Ser1384=
NM_012309.5:c.5289G>A MANE Select	NP_036441.2:p.Ser1763=