Canonical Allele Identifier: CA6160720

Gene: SHANK2

Linked Data

• dbSNP Id: rs782463008
• ExAC: 11:70319213 GTTGCAGTATCGA / G
• gnomAD v2: 11-70319213-GTTGCAGTATCGA-G
• MyVariant Identifiers: chr11:g.70319214_70319225del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473109_70473120del , CM000673.2:g.70473109_70473120del	GRCh38
NC_000011.9:g.70319214_70319225del , CM000673.1:g.70319214_70319225del	GRCh37
NC_000011.8:g.69996862_69996873del	NCBI36
NG_042866.1:g.656677_656688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532_3543del	ENSP00000345193.7:p.Ser1178_Gln1181del
ENST00000412252.6:c.1077_1088del	ENSP00000414876.2:n.1077_1088del
ENST00000601538.6:c.5299_5310del MANE Select	ENSP00000469689.2:p.Ser1767_Gln1770del
ENST00000654939.1:c.2808_2819del
ENST00000656230.1:c.4162_4173del	ENSP00000499561.1:p.Ser1388_Gln1391del
ENST00000659264.1:c.3589_3600del	ENSP00000499270.1:p.Ser1197_Gln1200del
ENST00000338508.8:c.3535_3546del	ENSP00000345193.6:p.Ser1179_Gln1182del
ENST00000357171.7:c.*303_*314del	ENSP00000349694.4:n.*303_*314del
ENST00000409161.5:c.3511_3522del	ENSP00000386491.1:p.Ser1171_Gln1174del
ENST00000412252.5:c.1075_1086del
ENST00000423696.6:c.4162_4173del	ENSP00000394536.2:p.Ser1388_Gln1391del
ENST00000424924.5:c.3136_3147del	ENSP00000402944.1:p.Ser1046_Gln1049del
ENST00000449833.6:c.3535_3546del	ENSP00000399423.3:p.Ser1179_Gln1182del
ENST00000601538.5:c.5299_5310del	ENSP00000469689.2:p.Ser1767_Gln1770del
ENST00000606715.3:n.2051_2062del
NM_012309.4:c.5299_5310del	NP_036441.2:p.Ser1767_Gln1770del
NM_133266.4:c.3535_3546del	NP_573573.2:p.Ser1179_Gln1182del
NR_110766.1:n.1153_1164del
XM_005277930.2:c.5299_5310del	XP_005277987.1:p.Ser1767_Gln1770del
XM_005277932.2:c.4162_4173del	XP_005277989.1:p.Ser1388_Gln1391del
XM_006718478.2:c.5269_5280del	XP_006718541.1:p.Ser1757_Gln1760del
XM_011544854.1:c.5311_5322del	XP_011543156.1:p.Ser1771_Gln1774del
XM_011544855.1:c.5290_5301del	XP_011543157.1:p.Ser1764_Gln1767del
XM_011544856.1:c.5284_5295del	XP_011543158.1:p.Ser1762_Gln1765del
XM_011544857.1:c.5263_5274del	XP_011543159.1:p.Ser1755_Gln1758del
XM_011544859.1:c.4174_4185del	XP_011543161.1:p.Ser1392_Gln1395del
XM_005277932.3:c.4162_4173del	XP_005277989.1:p.Ser1388_Gln1391del
XM_017017387.1:c.5299_5310del	XP_016872876.1:p.Ser1767_Gln1770del
XM_017017388.1:c.5299_5310del	XP_016872877.1:p.Ser1767_Gln1770del
XM_017017389.1:c.5272_5283del	XP_016872878.1:p.Ser1758_Gln1761del
XM_017017390.1:c.3589_3600del	XP_016872879.1:p.Ser1197_Gln1200del
NM_133266.5:c.3535_3546del	NP_573573.2:p.Ser1179_Gln1182del
NR_110766.2:n.1154_1165del
NM_001379226.1:c.4162_4173del	NP_001366155.1:p.Ser1388_Gln1391del
NM_012309.5:c.5299_5310del MANE Select	NP_036441.2:p.Ser1767_Gln1770del