Canonical Allele Identifier: CA381675680

Gene: SHANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532T>A	ENSP00000345193.7:p.Ser1178Thr
ENST00000412252.6:c.1077T>A	ENSP00000414876.2:n.1077T>A
ENST00000601538.6:c.5299T>A MANE Select	ENSP00000469689.2:p.Ser1767Thr
ENST00000654939.1:c.2808T>A
ENST00000656230.1:c.4162T>A	ENSP00000499561.1:p.Ser1388Thr
ENST00000659264.1:c.3589T>A	ENSP00000499270.1:p.Ser1197Thr
ENST00000338508.8:c.3535T>A	ENSP00000345193.6:p.Ser1179Thr
ENST00000357171.7:c.*303T>A	ENSP00000349694.4:n.*303T>A
ENST00000409161.5:c.3511T>A	ENSP00000386491.1:p.Ser1171Thr
ENST00000412252.5:c.1075T>A
ENST00000423696.6:c.4162T>A	ENSP00000394536.2:p.Ser1388Thr
ENST00000424924.5:c.3136T>A	ENSP00000402944.1:p.Ser1046Thr
ENST00000449833.6:c.3535T>A	ENSP00000399423.3:p.Ser1179Thr
ENST00000601538.5:c.5299T>A	ENSP00000469689.2:p.Ser1767Thr
ENST00000606715.3:n.2051T>A
NM_012309.4:c.5299T>A	NP_036441.2:p.Ser1767Thr
NM_133266.4:c.3535T>A	NP_573573.2:p.Ser1179Thr
NR_110766.1:n.1153T>A
XM_005277930.2:c.5299T>A	XP_005277987.1:p.Ser1767Thr
XM_005277932.2:c.4162T>A	XP_005277989.1:p.Ser1388Thr
XM_006718478.2:c.5269T>A	XP_006718541.1:p.Ser1757Thr
XM_011544854.1:c.5311T>A	XP_011543156.1:p.Ser1771Thr
XM_011544855.1:c.5290T>A	XP_011543157.1:p.Ser1764Thr
XM_011544856.1:c.5284T>A	XP_011543158.1:p.Ser1762Thr
XM_011544857.1:c.5263T>A	XP_011543159.1:p.Ser1755Thr
XM_011544859.1:c.4174T>A	XP_011543161.1:p.Ser1392Thr
XM_005277932.3:c.4162T>A	XP_005277989.1:p.Ser1388Thr
XM_017017387.1:c.5299T>A	XP_016872876.1:p.Ser1767Thr
XM_017017388.1:c.5299T>A	XP_016872877.1:p.Ser1767Thr
XM_017017389.1:c.5272T>A	XP_016872878.1:p.Ser1758Thr
XM_017017390.1:c.3589T>A	XP_016872879.1:p.Ser1197Thr
NM_133266.5:c.3535T>A	NP_573573.2:p.Ser1179Thr
NR_110766.2:n.1154T>A
NM_001379226.1:c.4162T>A	NP_001366155.1:p.Ser1388Thr
NM_012309.5:c.5299T>A MANE Select	NP_036441.2:p.Ser1767Thr