Canonical Allele Identifier: CA2573147657

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 1690890
• ClinVar RCV Id: RCV002252482
• dbSNP Id: rs2135665193

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473433_70473434del , CM000673.2:g.70473433_70473434del	GRCh38
NC_000011.9:g.70319538_70319539del , CM000673.1:g.70319538_70319539del	GRCh37
NC_000011.8:g.69997186_69997187del	NCBI36
NG_042866.1:g.656363_656364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3218_3219del	ENSP00000345193.7:p.Pro1073ArgfsTer?
ENST00000412252.6:c.763_764del	ENSP00000414876.2:p.Arg255GlufsTer?
ENST00000601538.6:c.4985_4986del MANE Select	ENSP00000469689.2:p.Pro1662ArgfsTer?
ENST00000654939.1:c.2494_2495del
ENST00000656230.1:c.3848_3849del	ENSP00000499561.1:p.Pro1283ArgfsTer?
ENST00000659264.1:c.3275_3276del	ENSP00000499270.1:p.Pro1092ArgfsTer?
ENST00000338508.8:c.3221_3222del	ENSP00000345193.6:p.Pro1074ArgfsTer?
ENST00000357171.7:c.724_725del	ENSP00000349694.4:p.Arg242GlufsTer?
ENST00000409161.5:c.3197_3198del	ENSP00000386491.1:p.Pro1066ArgfsTer?
ENST00000412252.5:c.761_762del
ENST00000423696.6:c.3848_3849del	ENSP00000394536.2:p.Pro1283ArgfsTer?
ENST00000424924.5:c.2822_2823del	ENSP00000402944.1:p.Pro941ArgfsTer?
ENST00000449833.6:c.3221_3222del	ENSP00000399423.3:p.Pro1074ArgfsTer?
ENST00000601538.5:c.4985_4986del	ENSP00000469689.2:p.Pro1662ArgfsTer?
ENST00000606715.3:n.1737_1738del
NM_012309.4:c.4985_4986del	NP_036441.2:p.Pro1662ArgfsTer?
NM_133266.4:c.3221_3222del	NP_573573.2:p.Pro1074ArgfsTer?
NR_110766.1:n.839_840del
XM_005277930.2:c.4985_4986del	XP_005277987.1:p.Pro1662ArgfsTer?
XM_005277932.2:c.3848_3849del	XP_005277989.1:p.Pro1283ArgfsTer?
XM_006718478.2:c.4955_4956del	XP_006718541.1:p.Pro1652ArgfsTer?
XM_011544854.1:c.4997_4998del	XP_011543156.1:p.Pro1666ArgfsTer?
XM_011544855.1:c.4976_4977del	XP_011543157.1:p.Pro1659ArgfsTer?
XM_011544856.1:c.4970_4971del	XP_011543158.1:p.Pro1657ArgfsTer?
XM_011544857.1:c.4949_4950del	XP_011543159.1:p.Pro1650ArgfsTer?
XM_011544859.1:c.3860_3861del	XP_011543161.1:p.Pro1287ArgfsTer?
XM_005277932.3:c.3848_3849del	XP_005277989.1:p.Pro1283ArgfsTer?
XM_017017387.1:c.4985_4986del	XP_016872876.1:p.Pro1662ArgfsTer?
XM_017017388.1:c.4985_4986del	XP_016872877.1:p.Pro1662ArgfsTer?
XM_017017389.1:c.4958_4959del	XP_016872878.1:p.Pro1653ArgfsTer?
XM_017017390.1:c.3275_3276del	XP_016872879.1:p.Pro1092ArgfsTer?
NM_133266.5:c.3221_3222del	NP_573573.2:p.Pro1074ArgfsTer?
NR_110766.2:n.840_841del
NM_001379226.1:c.3848_3849del	NP_001366155.1:p.Pro1283ArgfsTer?
NM_012309.5:c.4985_4986del MANE Select	NP_036441.2:p.Pro1662ArgfsTer?