Canonical Allele Identifier: CA2574908650
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473532dup , CM000673.2:g.70473532dup GRCh38
NC_000011.9:g.70319637dup , CM000673.1:g.70319637dup GRCh37
NC_000011.8:g.69997285dup NCBI36
NG_042866.1:g.656267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3213-91dup ENSP00000345193.7:n.3213-91dup
ENST00000412252.6:c.758-91dup ENSP00000414876.2:n.758-91dup
ENST00000601538.6:c.4980-91dup MANE Select ENSP00000469689.2:n.4980-91dup
ENST00000654939.1:c.2489-91dup
ENST00000656230.1:c.3843-91dup ENSP00000499561.1:n.3843-91dup
ENST00000659264.1:c.3270-91dup ENSP00000499270.1:n.3270-91dup
ENST00000338508.8:c.3216-91dup ENSP00000345193.6:n.3216-91dup
ENST00000357171.7:c.719-91dup ENSP00000349694.4:n.719-91dup
ENST00000409161.5:c.3192-91dup ENSP00000386491.1:n.3192-91dup
ENST00000412252.5:c.756-91dup
ENST00000423696.6:c.3843-91dup ENSP00000394536.2:n.3843-91dup
ENST00000424924.5:c.2817-91dup ENSP00000402944.1:n.2817-91dup
ENST00000449833.6:c.3216-91dup ENSP00000399423.3:n.3216-91dup
ENST00000601538.5:c.4980-91dup ENSP00000469689.2:n.4980-91dup
ENST00000606715.3:n.1641dup
NM_012309.4:c.4980-91dup NP_036441.2:n.4980-91dup
NM_133266.4:c.3216-91dup NP_573573.2:n.3216-91dup
NR_110766.1:n.834-91dup
XM_005277930.2:c.4980-91dup XP_005277987.1:n.4980-91dup
XM_005277932.2:c.3843-91dup XP_005277989.1:n.3843-91dup
XM_006718478.2:c.4950-91dup XP_006718541.1:n.4950-91dup
XM_011544854.1:c.4992-91dup XP_011543156.1:n.4992-91dup
XM_011544855.1:c.4971-91dup XP_011543157.1:n.4971-91dup
XM_011544856.1:c.4965-91dup XP_011543158.1:n.4965-91dup
XM_011544857.1:c.4944-91dup XP_011543159.1:n.4944-91dup
XM_011544859.1:c.3855-91dup XP_011543161.1:n.3855-91dup
XM_005277932.3:c.3843-91dup XP_005277989.1:n.3843-91dup
XM_017017387.1:c.4980-91dup XP_016872876.1:n.4980-91dup
XM_017017388.1:c.4980-91dup XP_016872877.1:n.4980-91dup
XM_017017389.1:c.4953-91dup XP_016872878.1:n.4953-91dup
XM_017017390.1:c.3270-91dup XP_016872879.1:n.3270-91dup
NM_133266.5:c.3216-91dup NP_573573.2:n.3216-91dup
NR_110766.2:n.835-91dup
NM_001379226.1:c.3843-91dup NP_001366155.1:n.3843-91dup
NM_012309.5:c.4980-91dup MANE Select NP_036441.2:n.4980-91dup