Canonical Allele Identifier: CA381676230

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319344G>C (hg19) ; chr11:g.70473239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473239G>C , CM000673.2:g.70473239G>C	GRCh38
NC_000011.9:g.70319344G>C , CM000673.1:g.70319344G>C	GRCh37
NC_000011.8:g.69996992G>C	NCBI36
NG_042866.1:g.656558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3413C>G	ENSP00000345193.7:p.Ser1138Cys
ENST00000412252.6:c.958C>G	ENSP00000414876.2:n.958C>G
ENST00000601538.6:c.5180C>G MANE Select	ENSP00000469689.2:p.Ser1727Cys
ENST00000654939.1:c.2689C>G
ENST00000656230.1:c.4043C>G	ENSP00000499561.1:p.Ser1348Cys
ENST00000659264.1:c.3470C>G	ENSP00000499270.1:p.Ser1157Cys
ENST00000338508.8:c.3416C>G	ENSP00000345193.6:p.Ser1139Cys
ENST00000357171.7:c.*184C>G	ENSP00000349694.4:n.*184C>G
ENST00000409161.5:c.3392C>G	ENSP00000386491.1:p.Ser1131Cys
ENST00000412252.5:c.956C>G
ENST00000423696.6:c.4043C>G	ENSP00000394536.2:p.Ser1348Cys
ENST00000424924.5:c.3017C>G	ENSP00000402944.1:p.Ser1006Cys
ENST00000449833.6:c.3416C>G	ENSP00000399423.3:p.Ser1139Cys
ENST00000601538.5:c.5180C>G	ENSP00000469689.2:p.Ser1727Cys
ENST00000606715.3:n.1932C>G
NM_012309.4:c.5180C>G	NP_036441.2:p.Ser1727Cys
NM_133266.4:c.3416C>G	NP_573573.2:p.Ser1139Cys
NR_110766.1:n.1034C>G
XM_005277930.2:c.5180C>G	XP_005277987.1:p.Ser1727Cys
XM_005277932.2:c.4043C>G	XP_005277989.1:p.Ser1348Cys
XM_006718478.2:c.5150C>G	XP_006718541.1:p.Ser1717Cys
XM_011544854.1:c.5192C>G	XP_011543156.1:p.Ser1731Cys
XM_011544855.1:c.5171C>G	XP_011543157.1:p.Ser1724Cys
XM_011544856.1:c.5165C>G	XP_011543158.1:p.Ser1722Cys
XM_011544857.1:c.5144C>G	XP_011543159.1:p.Ser1715Cys
XM_011544859.1:c.4055C>G	XP_011543161.1:p.Ser1352Cys
XM_005277932.3:c.4043C>G	XP_005277989.1:p.Ser1348Cys
XM_017017387.1:c.5180C>G	XP_016872876.1:p.Ser1727Cys
XM_017017388.1:c.5180C>G	XP_016872877.1:p.Ser1727Cys
XM_017017389.1:c.5153C>G	XP_016872878.1:p.Ser1718Cys
XM_017017390.1:c.3470C>G	XP_016872879.1:p.Ser1157Cys
NM_133266.5:c.3416C>G	NP_573573.2:p.Ser1139Cys
NR_110766.2:n.1035C>G
NM_001379226.1:c.4043C>G	NP_001366155.1:p.Ser1348Cys
NM_012309.5:c.5180C>G MANE Select	NP_036441.2:p.Ser1727Cys