Canonical Allele Identifier: CA381676633

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319491A>C (hg19) ; chr11:g.70473386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473386A>C , CM000673.2:g.70473386A>C	GRCh38
NC_000011.9:g.70319491A>C , CM000673.1:g.70319491A>C	GRCh37
NC_000011.8:g.69997139A>C	NCBI36
NG_042866.1:g.656411T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3266T>G	ENSP00000345193.7:p.Phe1089Cys
ENST00000412252.6:c.811T>G	ENSP00000414876.2:n.811T>G
ENST00000601538.6:c.5033T>G MANE Select	ENSP00000469689.2:p.Phe1678Cys
ENST00000654939.1:c.2542T>G
ENST00000656230.1:c.3896T>G	ENSP00000499561.1:p.Phe1299Cys
ENST00000659264.1:c.3323T>G	ENSP00000499270.1:p.Phe1108Cys
ENST00000338508.8:c.3269T>G	ENSP00000345193.6:p.Phe1090Cys
ENST00000357171.7:c.*37T>G	ENSP00000349694.4:n.*37T>G
ENST00000409161.5:c.3245T>G	ENSP00000386491.1:p.Phe1082Cys
ENST00000412252.5:c.809T>G
ENST00000423696.6:c.3896T>G	ENSP00000394536.2:p.Phe1299Cys
ENST00000424924.5:c.2870T>G	ENSP00000402944.1:p.Phe957Cys
ENST00000449833.6:c.3269T>G	ENSP00000399423.3:p.Phe1090Cys
ENST00000601538.5:c.5033T>G	ENSP00000469689.2:p.Phe1678Cys
ENST00000606715.3:n.1785T>G
NM_012309.4:c.5033T>G	NP_036441.2:p.Phe1678Cys
NM_133266.4:c.3269T>G	NP_573573.2:p.Phe1090Cys
NR_110766.1:n.887T>G
XM_005277930.2:c.5033T>G	XP_005277987.1:p.Phe1678Cys
XM_005277932.2:c.3896T>G	XP_005277989.1:p.Phe1299Cys
XM_006718478.2:c.5003T>G	XP_006718541.1:p.Phe1668Cys
XM_011544854.1:c.5045T>G	XP_011543156.1:p.Phe1682Cys
XM_011544855.1:c.5024T>G	XP_011543157.1:p.Phe1675Cys
XM_011544856.1:c.5018T>G	XP_011543158.1:p.Phe1673Cys
XM_011544857.1:c.4997T>G	XP_011543159.1:p.Phe1666Cys
XM_011544859.1:c.3908T>G	XP_011543161.1:p.Phe1303Cys
XM_005277932.3:c.3896T>G	XP_005277989.1:p.Phe1299Cys
XM_017017387.1:c.5033T>G	XP_016872876.1:p.Phe1678Cys
XM_017017388.1:c.5033T>G	XP_016872877.1:p.Phe1678Cys
XM_017017389.1:c.5006T>G	XP_016872878.1:p.Phe1669Cys
XM_017017390.1:c.3323T>G	XP_016872879.1:p.Phe1108Cys
NM_133266.5:c.3269T>G	NP_573573.2:p.Phe1090Cys
NR_110766.2:n.888T>G
NM_001379226.1:c.3896T>G	NP_001366155.1:p.Phe1299Cys
NM_012309.5:c.5033T>G MANE Select	NP_036441.2:p.Phe1678Cys