Canonical Allele Identifier: CA6160724

Gene: SHANK2

Linked Data

• dbSNP Id: rs200116785
• ExAC: 11:70319223 C / T
• gnomAD v2: 11-70319223-C-T
• gnomAD v3: 11-70473118-C-T
• gnomAD v4: 11-70473118-C-T
• COSMIC: COSM4036319 ; COSM4036320 ; COSM4907589
• MyVariant Identifiers: chr11:g.70319223C>T (hg19) ; chr11:g.70473118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473118C>T , CM000673.2:g.70473118C>T	GRCh38
NC_000011.9:g.70319223C>T , CM000673.1:g.70319223C>T	GRCh37
NC_000011.8:g.69996871C>T	NCBI36
NG_042866.1:g.656679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3534G>A	ENSP00000345193.7:p.Ser1178=
ENST00000412252.6:c.1079G>A	ENSP00000414876.2:n.1079G>A
ENST00000601538.6:c.5301G>A MANE Select	ENSP00000469689.2:p.Ser1767=
ENST00000654939.1:c.2810G>A
ENST00000656230.1:c.4164G>A	ENSP00000499561.1:p.Ser1388=
ENST00000659264.1:c.3591G>A	ENSP00000499270.1:p.Ser1197=
ENST00000338508.8:c.3537G>A	ENSP00000345193.6:p.Ser1179=
ENST00000357171.7:c.*305G>A	ENSP00000349694.4:n.*305G>A
ENST00000409161.5:c.3513G>A	ENSP00000386491.1:p.Ser1171=
ENST00000412252.5:c.1077G>A
ENST00000423696.6:c.4164G>A	ENSP00000394536.2:p.Ser1388=
ENST00000424924.5:c.3138G>A	ENSP00000402944.1:p.Ser1046=
ENST00000449833.6:c.3537G>A	ENSP00000399423.3:p.Ser1179=
ENST00000601538.5:c.5301G>A	ENSP00000469689.2:p.Ser1767=
ENST00000606715.3:n.2053G>A
NM_012309.4:c.5301G>A	NP_036441.2:p.Ser1767=
NM_133266.4:c.3537G>A	NP_573573.2:p.Ser1179=
NR_110766.1:n.1155G>A
XM_005277930.2:c.5301G>A	XP_005277987.1:p.Ser1767=
XM_005277932.2:c.4164G>A	XP_005277989.1:p.Ser1388=
XM_006718478.2:c.5271G>A	XP_006718541.1:p.Ser1757=
XM_011544854.1:c.5313G>A	XP_011543156.1:p.Ser1771=
XM_011544855.1:c.5292G>A	XP_011543157.1:p.Ser1764=
XM_011544856.1:c.5286G>A	XP_011543158.1:p.Ser1762=
XM_011544857.1:c.5265G>A	XP_011543159.1:p.Ser1755=
XM_011544859.1:c.4176G>A	XP_011543161.1:p.Ser1392=
XM_005277932.3:c.4164G>A	XP_005277989.1:p.Ser1388=
XM_017017387.1:c.5301G>A	XP_016872876.1:p.Ser1767=
XM_017017388.1:c.5301G>A	XP_016872877.1:p.Ser1767=
XM_017017389.1:c.5274G>A	XP_016872878.1:p.Ser1758=
XM_017017390.1:c.3591G>A	XP_016872879.1:p.Ser1197=
NM_133266.5:c.3537G>A	NP_573573.2:p.Ser1179=
NR_110766.2:n.1156G>A
NM_001379226.1:c.4164G>A	NP_001366155.1:p.Ser1388=
NM_012309.5:c.5301G>A MANE Select	NP_036441.2:p.Ser1767=