Canonical Allele Identifier: CA2792603598

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473579_70473580insAG , CM000673.2:g.70473579_70473580insAG	GRCh38
NC_000011.9:g.70319684_70319685insAG , CM000673.1:g.70319684_70319685insAG	GRCh37
NC_000011.8:g.69997332_69997333insAG	NCBI36
NG_042866.1:g.656217_656218insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-141_3213-140insCT	ENSP00000345193.7:n.3213-141_3213-140insCT
ENST00000412252.6:c.758-141_758-140insCT	ENSP00000414876.2:n.758-141_758-140insCT
ENST00000601538.6:c.4980-141_4980-140insCT MANE Select	ENSP00000469689.2:n.4980-141_4980-140insCT
ENST00000654939.1:c.2489-141_2489-140insCT
ENST00000656230.1:c.3843-141_3843-140insCT	ENSP00000499561.1:n.3843-141_3843-140insCT
ENST00000659264.1:c.3270-141_3270-140insCT	ENSP00000499270.1:n.3270-141_3270-140insCT
ENST00000338508.8:c.3216-141_3216-140insCT	ENSP00000345193.6:n.3216-141_3216-140insCT
ENST00000357171.7:c.719-141_719-140insCT	ENSP00000349694.4:n.719-141_719-140insCT
ENST00000409161.5:c.3192-141_3192-140insCT	ENSP00000386491.1:n.3192-141_3192-140insCT
ENST00000412252.5:c.756-141_756-140insCT
ENST00000423696.6:c.3843-141_3843-140insCT	ENSP00000394536.2:n.3843-141_3843-140insCT
ENST00000424924.5:c.2817-141_2817-140insCT	ENSP00000402944.1:n.2817-141_2817-140insCT
ENST00000449833.6:c.3216-141_3216-140insCT	ENSP00000399423.3:n.3216-141_3216-140insCT
ENST00000601538.5:c.4980-141_4980-140insCT	ENSP00000469689.2:n.4980-141_4980-140insCT
ENST00000606715.3:n.1591_1592insCT
NM_012309.4:c.4980-141_4980-140insCT	NP_036441.2:n.4980-141_4980-140insCT
NM_133266.4:c.3216-141_3216-140insCT	NP_573573.2:n.3216-141_3216-140insCT
NR_110766.1:n.834-141_834-140insCT
XM_005277930.2:c.4980-141_4980-140insCT	XP_005277987.1:n.4980-141_4980-140insCT
XM_005277932.2:c.3843-141_3843-140insCT	XP_005277989.1:n.3843-141_3843-140insCT
XM_006718478.2:c.4950-141_4950-140insCT	XP_006718541.1:n.4950-141_4950-140insCT
XM_011544854.1:c.4992-141_4992-140insCT	XP_011543156.1:n.4992-141_4992-140insCT
XM_011544855.1:c.4971-141_4971-140insCT	XP_011543157.1:n.4971-141_4971-140insCT
XM_011544856.1:c.4965-141_4965-140insCT	XP_011543158.1:n.4965-141_4965-140insCT
XM_011544857.1:c.4944-141_4944-140insCT	XP_011543159.1:n.4944-141_4944-140insCT
XM_011544859.1:c.3855-141_3855-140insCT	XP_011543161.1:n.3855-141_3855-140insCT
XM_005277932.3:c.3843-141_3843-140insCT	XP_005277989.1:n.3843-141_3843-140insCT
XM_017017387.1:c.4980-141_4980-140insCT	XP_016872876.1:n.4980-141_4980-140insCT
XM_017017388.1:c.4980-141_4980-140insCT	XP_016872877.1:n.4980-141_4980-140insCT
XM_017017389.1:c.4953-141_4953-140insCT	XP_016872878.1:n.4953-141_4953-140insCT
XM_017017390.1:c.3270-141_3270-140insCT	XP_016872879.1:n.3270-141_3270-140insCT
NM_133266.5:c.3216-141_3216-140insCT	NP_573573.2:n.3216-141_3216-140insCT
NR_110766.2:n.835-141_835-140insCT
NM_001379226.1:c.3843-141_3843-140insCT	NP_001366155.1:n.3843-141_3843-140insCT
NM_012309.5:c.4980-141_4980-140insCT MANE Select	NP_036441.2:n.4980-141_4980-140insCT