Canonical Allele Identifier: CA2614835757
Gene: SHANK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473556_70473557insATCTGCCACTAGA , CM000673.2:g.70473556_70473557insATCTGCCACTAGA GRCh38
NC_000011.9:g.70319661_70319662insATCTGCCACTAGA , CM000673.1:g.70319661_70319662insATCTGCCACTAGA GRCh37
NC_000011.8:g.69997309_69997310insATCTGCCACTAGA NCBI36
NG_042866.1:g.656240_656241insTCTAGTGGCAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3213-118_3213-117insTCTAGTGGCAGAT ENSP00000345193.7:n.3213-118_3213-117insTCTAGTGGCAGAT
ENST00000412252.6:c.758-118_758-117insTCTAGTGGCAGAT ENSP00000414876.2:n.758-118_758-117insTCTAGTGGCAGAT
ENST00000601538.6:c.4980-118_4980-117insTCTAGTGGCAGAT MANE Select ENSP00000469689.2:n.4980-118_4980-117insTCTAGTGGCAGAT
ENST00000654939.1:c.2489-118_2489-117insTCTAGTGGCAGAT
ENST00000656230.1:c.3843-118_3843-117insTCTAGTGGCAGAT ENSP00000499561.1:n.3843-118_3843-117insTCTAGTGGCAGAT
ENST00000659264.1:c.3270-118_3270-117insTCTAGTGGCAGAT ENSP00000499270.1:n.3270-118_3270-117insTCTAGTGGCAGAT
ENST00000338508.8:c.3216-118_3216-117insTCTAGTGGCAGAT ENSP00000345193.6:n.3216-118_3216-117insTCTAGTGGCAGAT
ENST00000357171.7:c.719-118_719-117insTCTAGTGGCAGAT ENSP00000349694.4:n.719-118_719-117insTCTAGTGGCAGAT
ENST00000409161.5:c.3192-118_3192-117insTCTAGTGGCAGAT ENSP00000386491.1:n.3192-118_3192-117insTCTAGTGGCAGAT
ENST00000412252.5:c.756-118_756-117insTCTAGTGGCAGAT
ENST00000423696.6:c.3843-118_3843-117insTCTAGTGGCAGAT ENSP00000394536.2:n.3843-118_3843-117insTCTAGTGGCAGAT
ENST00000424924.5:c.2817-118_2817-117insTCTAGTGGCAGAT ENSP00000402944.1:n.2817-118_2817-117insTCTAGTGGCAGAT
ENST00000449833.6:c.3216-118_3216-117insTCTAGTGGCAGAT ENSP00000399423.3:n.3216-118_3216-117insTCTAGTGGCAGAT
ENST00000601538.5:c.4980-118_4980-117insTCTAGTGGCAGAT ENSP00000469689.2:n.4980-118_4980-117insTCTAGTGGCAGAT
ENST00000606715.3:n.1614_1615insTCTAGTGGCAGAT
NM_012309.4:c.4980-118_4980-117insTCTAGTGGCAGAT NP_036441.2:n.4980-118_4980-117insTCTAGTGGCAGAT
NM_133266.4:c.3216-118_3216-117insTCTAGTGGCAGAT NP_573573.2:n.3216-118_3216-117insTCTAGTGGCAGAT
NR_110766.1:n.834-118_834-117insTCTAGTGGCAGAT
XM_005277930.2:c.4980-118_4980-117insTCTAGTGGCAGAT XP_005277987.1:n.4980-118_4980-117insTCTAGTGGCAGAT
XM_005277932.2:c.3843-118_3843-117insTCTAGTGGCAGAT XP_005277989.1:n.3843-118_3843-117insTCTAGTGGCAGAT
XM_006718478.2:c.4950-118_4950-117insTCTAGTGGCAGAT XP_006718541.1:n.4950-118_4950-117insTCTAGTGGCAGAT
XM_011544854.1:c.4992-118_4992-117insTCTAGTGGCAGAT XP_011543156.1:n.4992-118_4992-117insTCTAGTGGCAGAT
XM_011544855.1:c.4971-118_4971-117insTCTAGTGGCAGAT XP_011543157.1:n.4971-118_4971-117insTCTAGTGGCAGAT
XM_011544856.1:c.4965-118_4965-117insTCTAGTGGCAGAT XP_011543158.1:n.4965-118_4965-117insTCTAGTGGCAGAT
XM_011544857.1:c.4944-118_4944-117insTCTAGTGGCAGAT XP_011543159.1:n.4944-118_4944-117insTCTAGTGGCAGAT
XM_011544859.1:c.3855-118_3855-117insTCTAGTGGCAGAT XP_011543161.1:n.3855-118_3855-117insTCTAGTGGCAGAT
XM_005277932.3:c.3843-118_3843-117insTCTAGTGGCAGAT XP_005277989.1:n.3843-118_3843-117insTCTAGTGGCAGAT
XM_017017387.1:c.4980-118_4980-117insTCTAGTGGCAGAT XP_016872876.1:n.4980-118_4980-117insTCTAGTGGCAGAT
XM_017017388.1:c.4980-118_4980-117insTCTAGTGGCAGAT XP_016872877.1:n.4980-118_4980-117insTCTAGTGGCAGAT
XM_017017389.1:c.4953-118_4953-117insTCTAGTGGCAGAT XP_016872878.1:n.4953-118_4953-117insTCTAGTGGCAGAT
XM_017017390.1:c.3270-118_3270-117insTCTAGTGGCAGAT XP_016872879.1:n.3270-118_3270-117insTCTAGTGGCAGAT
NM_133266.5:c.3216-118_3216-117insTCTAGTGGCAGAT NP_573573.2:n.3216-118_3216-117insTCTAGTGGCAGAT
NR_110766.2:n.835-118_835-117insTCTAGTGGCAGAT
NM_001379226.1:c.3843-118_3843-117insTCTAGTGGCAGAT NP_001366155.1:n.3843-118_3843-117insTCTAGTGGCAGAT
NM_012309.5:c.4980-118_4980-117insTCTAGTGGCAGAT MANE Select NP_036441.2:n.4980-118_4980-117insTCTAGTGGCAGAT