Canonical Allele Identifier: CA2574908643

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 1803070
• ClinVar RCV Id: RCV002466367

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473242_70473243del , CM000673.2:g.70473242_70473243del	GRCh38
NC_000011.9:g.70319347_70319348del , CM000673.1:g.70319347_70319348del	GRCh37
NC_000011.8:g.69996995_69996996del	NCBI36
NG_042866.1:g.656554_656555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3409_3410del	ENSP00000345193.7:p.Leu1137ValfsTer16
ENST00000412252.6:c.954_955del	ENSP00000414876.2:n.954_955del
ENST00000601538.6:c.5176_5177del MANE Select	ENSP00000469689.2:p.Leu1726ValfsTer16
ENST00000654939.1:c.2685_2686del
ENST00000656230.1:c.4039_4040del	ENSP00000499561.1:p.Leu1347ValfsTer16
ENST00000659264.1:c.3466_3467del	ENSP00000499270.1:p.Leu1156ValfsTer16
ENST00000338508.8:c.3412_3413del	ENSP00000345193.6:p.Leu1138ValfsTer16
ENST00000357171.7:c.*180_*181del	ENSP00000349694.4:n.*180_*181del
ENST00000409161.5:c.3388_3389del	ENSP00000386491.1:p.Leu1130ValfsTer16
ENST00000412252.5:c.952_953del
ENST00000423696.6:c.4039_4040del	ENSP00000394536.2:p.Leu1347ValfsTer16
ENST00000424924.5:c.3013_3014del	ENSP00000402944.1:p.Leu1005ValfsTer16
ENST00000449833.6:c.3412_3413del	ENSP00000399423.3:p.Leu1138ValfsTer16
ENST00000601538.5:c.5176_5177del	ENSP00000469689.2:p.Leu1726ValfsTer16
ENST00000606715.3:n.1928_1929del
NM_012309.4:c.5176_5177del	NP_036441.2:p.Leu1726ValfsTer16
NM_133266.4:c.3412_3413del	NP_573573.2:p.Leu1138ValfsTer16
NR_110766.1:n.1030_1031del
XM_005277930.2:c.5176_5177del	XP_005277987.1:p.Leu1726ValfsTer16
XM_005277932.2:c.4039_4040del	XP_005277989.1:p.Leu1347ValfsTer16
XM_006718478.2:c.5146_5147del	XP_006718541.1:p.Leu1716ValfsTer16
XM_011544854.1:c.5188_5189del	XP_011543156.1:p.Leu1730ValfsTer16
XM_011544855.1:c.5167_5168del	XP_011543157.1:p.Leu1723ValfsTer16
XM_011544856.1:c.5161_5162del	XP_011543158.1:p.Leu1721ValfsTer16
XM_011544857.1:c.5140_5141del	XP_011543159.1:p.Leu1714ValfsTer16
XM_011544859.1:c.4051_4052del	XP_011543161.1:p.Leu1351ValfsTer16
XM_005277932.3:c.4039_4040del	XP_005277989.1:p.Leu1347ValfsTer16
XM_017017387.1:c.5176_5177del	XP_016872876.1:p.Leu1726ValfsTer16
XM_017017388.1:c.5176_5177del	XP_016872877.1:p.Leu1726ValfsTer16
XM_017017389.1:c.5149_5150del	XP_016872878.1:p.Leu1717ValfsTer16
XM_017017390.1:c.3466_3467del	XP_016872879.1:p.Leu1156ValfsTer16
NM_133266.5:c.3412_3413del	NP_573573.2:p.Leu1138ValfsTer16
NR_110766.2:n.1031_1032del
NM_001379226.1:c.4039_4040del	NP_001366155.1:p.Leu1347ValfsTer16
NM_012309.5:c.5176_5177del MANE Select	NP_036441.2:p.Leu1726ValfsTer16