Canonical Allele Identifier: CA381675678

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319225A>C (hg19) ; chr11:g.70473120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473120A>C , CM000673.2:g.70473120A>C	GRCh38
NC_000011.9:g.70319225A>C , CM000673.1:g.70319225A>C	GRCh37
NC_000011.8:g.69996873A>C	NCBI36
NG_042866.1:g.656677T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532T>G	ENSP00000345193.7:p.Ser1178Ala
ENST00000412252.6:c.1077T>G	ENSP00000414876.2:n.1077T>G
ENST00000601538.6:c.5299T>G MANE Select	ENSP00000469689.2:p.Ser1767Ala
ENST00000654939.1:c.2808T>G
ENST00000656230.1:c.4162T>G	ENSP00000499561.1:p.Ser1388Ala
ENST00000659264.1:c.3589T>G	ENSP00000499270.1:p.Ser1197Ala
ENST00000338508.8:c.3535T>G	ENSP00000345193.6:p.Ser1179Ala
ENST00000357171.7:c.*303T>G	ENSP00000349694.4:n.*303T>G
ENST00000409161.5:c.3511T>G	ENSP00000386491.1:p.Ser1171Ala
ENST00000412252.5:c.1075T>G
ENST00000423696.6:c.4162T>G	ENSP00000394536.2:p.Ser1388Ala
ENST00000424924.5:c.3136T>G	ENSP00000402944.1:p.Ser1046Ala
ENST00000449833.6:c.3535T>G	ENSP00000399423.3:p.Ser1179Ala
ENST00000601538.5:c.5299T>G	ENSP00000469689.2:p.Ser1767Ala
ENST00000606715.3:n.2051T>G
NM_012309.4:c.5299T>G	NP_036441.2:p.Ser1767Ala
NM_133266.4:c.3535T>G	NP_573573.2:p.Ser1179Ala
NR_110766.1:n.1153T>G
XM_005277930.2:c.5299T>G	XP_005277987.1:p.Ser1767Ala
XM_005277932.2:c.4162T>G	XP_005277989.1:p.Ser1388Ala
XM_006718478.2:c.5269T>G	XP_006718541.1:p.Ser1757Ala
XM_011544854.1:c.5311T>G	XP_011543156.1:p.Ser1771Ala
XM_011544855.1:c.5290T>G	XP_011543157.1:p.Ser1764Ala
XM_011544856.1:c.5284T>G	XP_011543158.1:p.Ser1762Ala
XM_011544857.1:c.5263T>G	XP_011543159.1:p.Ser1755Ala
XM_011544859.1:c.4174T>G	XP_011543161.1:p.Ser1392Ala
XM_005277932.3:c.4162T>G	XP_005277989.1:p.Ser1388Ala
XM_017017387.1:c.5299T>G	XP_016872876.1:p.Ser1767Ala
XM_017017388.1:c.5299T>G	XP_016872877.1:p.Ser1767Ala
XM_017017389.1:c.5272T>G	XP_016872878.1:p.Ser1758Ala
XM_017017390.1:c.3589T>G	XP_016872879.1:p.Ser1197Ala
NM_133266.5:c.3535T>G	NP_573573.2:p.Ser1179Ala
NR_110766.2:n.1154T>G
NM_001379226.1:c.4162T>G	NP_001366155.1:p.Ser1388Ala
NM_012309.5:c.5299T>G MANE Select	NP_036441.2:p.Ser1767Ala