Canonical Allele Identifier: CA6160746

Gene: SHANK2

Linked Data

• dbSNP Id: rs782707058
• ExAC: 11:70319321 GAGA / G
• gnomAD v2: 11-70319321-GAGA-G
• gnomAD v3: 11-70473216-GAGA-G
• gnomAD v4: 11-70473216-GAGA-G
• COSMIC: COSM931492 ; COSM931493
• MyVariant Identifiers: chr11:g.70319322_70319324del (hg19) ; chr11:g.70473218_70473220del (hg38) ; chr11:g.70473217_70473219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473219_70473221del , CM000673.2:g.70473219_70473221del	GRCh38
NC_000011.9:g.70319324_70319326del , CM000673.1:g.70319324_70319326del	GRCh37
NC_000011.8:g.69996972_69996974del	NCBI36
NG_042866.1:g.656578_656580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3433_3435del	ENSP00000345193.7:p.Ser1145del
ENST00000412252.6:c.978_980del	ENSP00000414876.2:n.978_980del
ENST00000601538.6:c.5200_5202del MANE Select	ENSP00000469689.2:p.Ser1734del
ENST00000654939.1:c.2709_2711del
ENST00000656230.1:c.4063_4065del	ENSP00000499561.1:p.Ser1355del
ENST00000659264.1:c.3490_3492del	ENSP00000499270.1:p.Ser1164del
ENST00000338508.8:c.3436_3438del	ENSP00000345193.6:p.Ser1146del
ENST00000357171.7:c.*204_*206del	ENSP00000349694.4:n.*204_*206del
ENST00000409161.5:c.3412_3414del	ENSP00000386491.1:p.Ser1138del
ENST00000412252.5:c.976_978del
ENST00000423696.6:c.4063_4065del	ENSP00000394536.2:p.Ser1355del
ENST00000424924.5:c.3037_3039del	ENSP00000402944.1:p.Ser1013del
ENST00000449833.6:c.3436_3438del	ENSP00000399423.3:p.Ser1146del
ENST00000601538.5:c.5200_5202del	ENSP00000469689.2:p.Ser1734del
ENST00000606715.3:n.1952_1954del
NM_012309.4:c.5200_5202del	NP_036441.2:p.Ser1734del
NM_133266.4:c.3436_3438del	NP_573573.2:p.Ser1146del
NR_110766.1:n.1054_1056del
XM_005277930.2:c.5200_5202del	XP_005277987.1:p.Ser1734del
XM_005277932.2:c.4063_4065del	XP_005277989.1:p.Ser1355del
XM_006718478.2:c.5170_5172del	XP_006718541.1:p.Ser1724del
XM_011544854.1:c.5212_5214del	XP_011543156.1:p.Ser1738del
XM_011544855.1:c.5191_5193del	XP_011543157.1:p.Ser1731del
XM_011544856.1:c.5185_5187del	XP_011543158.1:p.Ser1729del
XM_011544857.1:c.5164_5166del	XP_011543159.1:p.Ser1722del
XM_011544859.1:c.4075_4077del	XP_011543161.1:p.Ser1359del
XM_005277932.3:c.4063_4065del	XP_005277989.1:p.Ser1355del
XM_017017387.1:c.5200_5202del	XP_016872876.1:p.Ser1734del
XM_017017388.1:c.5200_5202del	XP_016872877.1:p.Ser1734del
XM_017017389.1:c.5173_5175del	XP_016872878.1:p.Ser1725del
XM_017017390.1:c.3490_3492del	XP_016872879.1:p.Ser1164del
NM_133266.5:c.3436_3438del	NP_573573.2:p.Ser1146del
NR_110766.2:n.1055_1057del
NM_001379226.1:c.4063_4065del	NP_001366155.1:p.Ser1355del
NM_012309.5:c.5200_5202del MANE Select	NP_036441.2:p.Ser1734del