Canonical Allele Identifier: CA2792603591

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473338_70473339dup , CM000673.2:g.70473338_70473339dup	GRCh38
NC_000011.9:g.70319443_70319444dup , CM000673.1:g.70319443_70319444dup	GRCh37
NC_000011.8:g.69997091_69997092dup	NCBI36
NG_042866.1:g.656462_656463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3317_3318dup	ENSP00000345193.7:p.Asp1107ProfsTer23
ENST00000412252.6:c.862_863dup	ENSP00000414876.2:n.862_863dup
ENST00000601538.6:c.5084_5085dup MANE Select	ENSP00000469689.2:p.Asp1696ProfsTer23
ENST00000654939.1:c.2593_2594dup
ENST00000656230.1:c.3947_3948dup	ENSP00000499561.1:p.Asp1317ProfsTer23
ENST00000659264.1:c.3374_3375dup	ENSP00000499270.1:p.Asp1126ProfsTer23
ENST00000338508.8:c.3320_3321dup	ENSP00000345193.6:p.Asp1108ProfsTer23
ENST00000357171.7:c.*88_*89dup	ENSP00000349694.4:n.*88_*89dup
ENST00000409161.5:c.3296_3297dup	ENSP00000386491.1:p.Asp1100ProfsTer23
ENST00000412252.5:c.860_861dup
ENST00000423696.6:c.3947_3948dup	ENSP00000394536.2:p.Asp1317ProfsTer23
ENST00000424924.5:c.2921_2922dup	ENSP00000402944.1:p.Asp975ProfsTer23
ENST00000449833.6:c.3320_3321dup	ENSP00000399423.3:p.Asp1108ProfsTer23
ENST00000601538.5:c.5084_5085dup	ENSP00000469689.2:p.Asp1696ProfsTer23
ENST00000606715.3:n.1836_1837dup
NM_012309.4:c.5084_5085dup	NP_036441.2:p.Asp1696ProfsTer23
NM_133266.4:c.3320_3321dup	NP_573573.2:p.Asp1108ProfsTer23
NR_110766.1:n.938_939dup
XM_005277930.2:c.5084_5085dup	XP_005277987.1:p.Asp1696ProfsTer23
XM_005277932.2:c.3947_3948dup	XP_005277989.1:p.Asp1317ProfsTer23
XM_006718478.2:c.5054_5055dup	XP_006718541.1:p.Asp1686ProfsTer23
XM_011544854.1:c.5096_5097dup	XP_011543156.1:p.Asp1700ProfsTer23
XM_011544855.1:c.5075_5076dup	XP_011543157.1:p.Asp1693ProfsTer23
XM_011544856.1:c.5069_5070dup	XP_011543158.1:p.Asp1691ProfsTer23
XM_011544857.1:c.5048_5049dup	XP_011543159.1:p.Asp1684ProfsTer23
XM_011544859.1:c.3959_3960dup	XP_011543161.1:p.Asp1321ProfsTer23
XM_005277932.3:c.3947_3948dup	XP_005277989.1:p.Asp1317ProfsTer23
XM_017017387.1:c.5084_5085dup	XP_016872876.1:p.Asp1696ProfsTer23
XM_017017388.1:c.5084_5085dup	XP_016872877.1:p.Asp1696ProfsTer23
XM_017017389.1:c.5057_5058dup	XP_016872878.1:p.Asp1687ProfsTer23
XM_017017390.1:c.3374_3375dup	XP_016872879.1:p.Asp1126ProfsTer23
NM_133266.5:c.3320_3321dup	NP_573573.2:p.Asp1108ProfsTer23
NR_110766.2:n.939_940dup
NM_001379226.1:c.3947_3948dup	NP_001366155.1:p.Asp1317ProfsTer23
NM_012309.5:c.5084_5085dup MANE Select	NP_036441.2:p.Asp1696ProfsTer23