Canonical Allele Identifier: CA2614835738
Gene: SHANK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473542del , CM000673.2:g.70473542del GRCh38
NC_000011.9:g.70319647del , CM000673.1:g.70319647del GRCh37
NC_000011.8:g.69997295del NCBI36
NG_042866.1:g.656256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3213-102del ENSP00000345193.7:n.3213-102del
ENST00000412252.6:c.758-102del ENSP00000414876.2:n.758-102del
ENST00000601538.6:c.4980-102del MANE Select ENSP00000469689.2:n.4980-102del
ENST00000654939.1:c.2489-102del
ENST00000656230.1:c.3843-102del ENSP00000499561.1:n.3843-102del
ENST00000659264.1:c.3270-102del ENSP00000499270.1:n.3270-102del
ENST00000338508.8:c.3216-102del ENSP00000345193.6:n.3216-102del
ENST00000357171.7:c.719-102del ENSP00000349694.4:n.719-102del
ENST00000409161.5:c.3192-102del ENSP00000386491.1:n.3192-102del
ENST00000412252.5:c.756-102del
ENST00000423696.6:c.3843-102del ENSP00000394536.2:n.3843-102del
ENST00000424924.5:c.2817-102del ENSP00000402944.1:n.2817-102del
ENST00000449833.6:c.3216-102del ENSP00000399423.3:n.3216-102del
ENST00000601538.5:c.4980-102del ENSP00000469689.2:n.4980-102del
ENST00000606715.3:n.1630del
NM_012309.4:c.4980-102del NP_036441.2:n.4980-102del
NM_133266.4:c.3216-102del NP_573573.2:n.3216-102del
NR_110766.1:n.834-102del
XM_005277930.2:c.4980-102del XP_005277987.1:n.4980-102del
XM_005277932.2:c.3843-102del XP_005277989.1:n.3843-102del
XM_006718478.2:c.4950-102del XP_006718541.1:n.4950-102del
XM_011544854.1:c.4992-102del XP_011543156.1:n.4992-102del
XM_011544855.1:c.4971-102del XP_011543157.1:n.4971-102del
XM_011544856.1:c.4965-102del XP_011543158.1:n.4965-102del
XM_011544857.1:c.4944-102del XP_011543159.1:n.4944-102del
XM_011544859.1:c.3855-102del XP_011543161.1:n.3855-102del
XM_005277932.3:c.3843-102del XP_005277989.1:n.3843-102del
XM_017017387.1:c.4980-102del XP_016872876.1:n.4980-102del
XM_017017388.1:c.4980-102del XP_016872877.1:n.4980-102del
XM_017017389.1:c.4953-102del XP_016872878.1:n.4953-102del
XM_017017390.1:c.3270-102del XP_016872879.1:n.3270-102del
NM_133266.5:c.3216-102del NP_573573.2:n.3216-102del
NR_110766.2:n.835-102del
NM_001379226.1:c.3843-102del NP_001366155.1:n.3843-102del
NM_012309.5:c.4980-102del MANE Select NP_036441.2:n.4980-102del