Canonical Allele Identifier: CA381683299

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332151T>G (hg19) ; chr11:g.70486046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486046T>G , CM000673.2:g.70486046T>G	GRCh38
NC_000011.9:g.70332151T>G , CM000673.1:g.70332151T>G	GRCh37
NC_000011.8:g.70009799T>G	NCBI36
NG_042866.1:g.643751A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2480A>C	ENSP00000345193.7:p.Glu827Ala
ENST00000412252.6:c.757+4257A>C	ENSP00000414876.2:n.757+4257A>C
ENST00000601538.6:c.4247A>C MANE Select	ENSP00000469689.2:p.Glu1416Ala
ENST00000654939.1:c.1675A>C
ENST00000656230.1:c.3110A>C	ENSP00000499561.1:p.Glu1037Ala
ENST00000659264.1:c.2537A>C	ENSP00000499270.1:p.Glu846Ala
ENST00000338508.8:c.2483A>C	ENSP00000345193.6:p.Glu828Ala
ENST00000357171.7:c.718+4257A>C	ENSP00000349694.4:n.718+4257A>C
ENST00000409161.5:c.2459A>C	ENSP00000386491.1:p.Glu820Ala
ENST00000412252.5:c.755+4257A>C
ENST00000423696.6:c.3110A>C	ENSP00000394536.2:p.Glu1037Ala
ENST00000424924.5:c.2084A>C	ENSP00000402944.1:p.Glu695Ala
ENST00000449833.6:c.2483A>C	ENSP00000399423.3:p.Glu828Ala
ENST00000601538.5:c.4247A>C	ENSP00000469689.2:p.Glu1416Ala
NM_012309.4:c.4247A>C	NP_036441.2:p.Glu1416Ala
NM_133266.4:c.2483A>C	NP_573573.2:p.Glu828Ala
NR_110766.1:n.833+4257A>C
XM_005277930.2:c.4247A>C	XP_005277987.1:p.Glu1416Ala
XM_005277932.2:c.3110A>C	XP_005277989.1:p.Glu1037Ala
XM_006718478.2:c.4217A>C	XP_006718541.1:p.Glu1406Ala
XM_011544854.1:c.4259A>C	XP_011543156.1:p.Glu1420Ala
XM_011544855.1:c.4238A>C	XP_011543157.1:p.Glu1413Ala
XM_011544856.1:c.4232A>C	XP_011543158.1:p.Glu1411Ala
XM_011544857.1:c.4211A>C	XP_011543159.1:p.Glu1404Ala
XM_011544858.1:c.4259A>C	XP_011543160.1:p.Glu1420Ala
XM_011544859.1:c.3122A>C	XP_011543161.1:p.Glu1041Ala
XM_005277932.3:c.3110A>C	XP_005277989.1:p.Glu1037Ala
XM_017017387.1:c.4247A>C	XP_016872876.1:p.Glu1416Ala
XM_017017388.1:c.4247A>C	XP_016872877.1:p.Glu1416Ala
XM_017017389.1:c.4220A>C	XP_016872878.1:p.Glu1407Ala
XM_017017390.1:c.2537A>C	XP_016872879.1:p.Glu846Ala
NM_133266.5:c.2483A>C	NP_573573.2:p.Glu828Ala
NR_110766.2:n.834+4257A>C
NM_001379226.1:c.3110A>C	NP_001366155.1:p.Glu1037Ala
NM_012309.5:c.4247A>C MANE Select	NP_036441.2:p.Glu1416Ala