Canonical Allele Identifier: CA2580084801

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 1701173
• ClinVar RCV Id: RCV002275969
• dbSNP Id: rs2135665081

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473409_70473411delinsTCCA , CM000673.2:g.70473409_70473411delinsTCCA	GRCh38
NC_000011.9:g.70319514_70319516delinsTCCA , CM000673.1:g.70319514_70319516delinsTCCA	GRCh37
NC_000011.8:g.69997162_69997164delinsTCCA	NCBI36
NG_042866.1:g.656386_656388delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3241_3243delinsTGGA	ENSP00000345193.7:p.Gly1081TrpfsTer29
ENST00000412252.6:c.786_788delinsTGGA	ENSP00000414876.2:n.786_788delinsTGGA
ENST00000601538.6:c.5008_5010delinsTGGA MANE Select	ENSP00000469689.2:p.Gly1670TrpfsTer29
ENST00000654939.1:c.2517_2519delinsTGGA
ENST00000656230.1:c.3871_3873delinsTGGA	ENSP00000499561.1:p.Gly1291TrpfsTer29
ENST00000659264.1:c.3298_3300delinsTGGA	ENSP00000499270.1:p.Gly1100TrpfsTer29
ENST00000338508.8:c.3244_3246delinsTGGA	ENSP00000345193.6:p.Gly1082TrpfsTer29
ENST00000357171.7:c.*12_*14delinsTGGA	ENSP00000349694.4:n.*12_*14delinsTGGA
ENST00000409161.5:c.3220_3222delinsTGGA	ENSP00000386491.1:p.Gly1074TrpfsTer29
ENST00000412252.5:c.784_786delinsTGGA
ENST00000423696.6:c.3871_3873delinsTGGA	ENSP00000394536.2:p.Gly1291TrpfsTer29
ENST00000424924.5:c.2845_2847delinsTGGA	ENSP00000402944.1:p.Gly949TrpfsTer29
ENST00000449833.6:c.3244_3246delinsTGGA	ENSP00000399423.3:p.Gly1082TrpfsTer29
ENST00000601538.5:c.5008_5010delinsTGGA	ENSP00000469689.2:p.Gly1670TrpfsTer29
ENST00000606715.3:n.1760_1762delinsTGGA
NM_012309.4:c.5008_5010delinsTGGA	NP_036441.2:p.Gly1670TrpfsTer29
NM_133266.4:c.3244_3246delinsTGGA	NP_573573.2:p.Gly1082TrpfsTer29
NR_110766.1:n.862_864delinsTGGA
XM_005277930.2:c.5008_5010delinsTGGA	XP_005277987.1:p.Gly1670TrpfsTer29
XM_005277932.2:c.3871_3873delinsTGGA	XP_005277989.1:p.Gly1291TrpfsTer29
XM_006718478.2:c.4978_4980delinsTGGA	XP_006718541.1:p.Gly1660TrpfsTer29
XM_011544854.1:c.5020_5022delinsTGGA	XP_011543156.1:p.Gly1674TrpfsTer29
XM_011544855.1:c.4999_5001delinsTGGA	XP_011543157.1:p.Gly1667TrpfsTer29
XM_011544856.1:c.4993_4995delinsTGGA	XP_011543158.1:p.Gly1665TrpfsTer29
XM_011544857.1:c.4972_4974delinsTGGA	XP_011543159.1:p.Gly1658TrpfsTer29
XM_011544859.1:c.3883_3885delinsTGGA	XP_011543161.1:p.Gly1295TrpfsTer29
XM_005277932.3:c.3871_3873delinsTGGA	XP_005277989.1:p.Gly1291TrpfsTer29
XM_017017387.1:c.5008_5010delinsTGGA	XP_016872876.1:p.Gly1670TrpfsTer29
XM_017017388.1:c.5008_5010delinsTGGA	XP_016872877.1:p.Gly1670TrpfsTer29
XM_017017389.1:c.4981_4983delinsTGGA	XP_016872878.1:p.Gly1661TrpfsTer29
XM_017017390.1:c.3298_3300delinsTGGA	XP_016872879.1:p.Gly1100TrpfsTer29
NM_133266.5:c.3244_3246delinsTGGA	NP_573573.2:p.Gly1082TrpfsTer29
NR_110766.2:n.863_865delinsTGGA
NM_001379226.1:c.3871_3873delinsTGGA	NP_001366155.1:p.Gly1291TrpfsTer29
NM_012309.5:c.5008_5010delinsTGGA MANE Select	NP_036441.2:p.Gly1670TrpfsTer29