Canonical Allele Identifier: CA381676588

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149292
• gnomAD v2: 11-70319483-G-A
• gnomAD v3: 11-70473378-G-A
• gnomAD v4: 11-70473378-G-A
• COSMIC: COSM5839481 ; COSM5839482 ; COSM5839483
• MyVariant Identifiers: chr11:g.70319483G>A (hg19) ; chr11:g.70473378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473378G>A , CM000673.2:g.70473378G>A	GRCh38
NC_000011.9:g.70319483G>A , CM000673.1:g.70319483G>A	GRCh37
NC_000011.8:g.69997131G>A	NCBI36
NG_042866.1:g.656419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3274C>T	ENSP00000345193.7:p.Arg1092Cys
ENST00000412252.6:c.819C>T	ENSP00000414876.2:n.819C>T
ENST00000601538.6:c.5041C>T MANE Select	ENSP00000469689.2:p.Arg1681Cys
ENST00000654939.1:c.2550C>T
ENST00000656230.1:c.3904C>T	ENSP00000499561.1:p.Arg1302Cys
ENST00000659264.1:c.3331C>T	ENSP00000499270.1:p.Arg1111Cys
ENST00000338508.8:c.3277C>T	ENSP00000345193.6:p.Arg1093Cys
ENST00000357171.7:c.*45C>T	ENSP00000349694.4:n.*45C>T
ENST00000409161.5:c.3253C>T	ENSP00000386491.1:p.Arg1085Cys
ENST00000412252.5:c.817C>T
ENST00000423696.6:c.3904C>T	ENSP00000394536.2:p.Arg1302Cys
ENST00000424924.5:c.2878C>T	ENSP00000402944.1:p.Arg960Cys
ENST00000449833.6:c.3277C>T	ENSP00000399423.3:p.Arg1093Cys
ENST00000601538.5:c.5041C>T	ENSP00000469689.2:p.Arg1681Cys
ENST00000606715.3:n.1793C>T
NM_012309.4:c.5041C>T	NP_036441.2:p.Arg1681Cys
NM_133266.4:c.3277C>T	NP_573573.2:p.Arg1093Cys
NR_110766.1:n.895C>T
XM_005277930.2:c.5041C>T	XP_005277987.1:p.Arg1681Cys
XM_005277932.2:c.3904C>T	XP_005277989.1:p.Arg1302Cys
XM_006718478.2:c.5011C>T	XP_006718541.1:p.Arg1671Cys
XM_011544854.1:c.5053C>T	XP_011543156.1:p.Arg1685Cys
XM_011544855.1:c.5032C>T	XP_011543157.1:p.Arg1678Cys
XM_011544856.1:c.5026C>T	XP_011543158.1:p.Arg1676Cys
XM_011544857.1:c.5005C>T	XP_011543159.1:p.Arg1669Cys
XM_011544859.1:c.3916C>T	XP_011543161.1:p.Arg1306Cys
XM_005277932.3:c.3904C>T	XP_005277989.1:p.Arg1302Cys
XM_017017387.1:c.5041C>T	XP_016872876.1:p.Arg1681Cys
XM_017017388.1:c.5041C>T	XP_016872877.1:p.Arg1681Cys
XM_017017389.1:c.5014C>T	XP_016872878.1:p.Arg1672Cys
XM_017017390.1:c.3331C>T	XP_016872879.1:p.Arg1111Cys
NM_133266.5:c.3277C>T	NP_573573.2:p.Arg1093Cys
NR_110766.2:n.896C>T
NM_001379226.1:c.3904C>T	NP_001366155.1:p.Arg1302Cys
NM_012309.5:c.5041C>T MANE Select	NP_036441.2:p.Arg1681Cys