Canonical Allele Identifier: CA6160718

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 1336482
• ClinVar RCV Id: RCV001817437
• dbSNP Id: rs782439841
• ExAC: 11:70319207 T / C
• gnomAD v2: 11-70319207-T-C
• gnomAD v3: 11-70473102-T-C
• gnomAD v4: 11-70473102-T-C
• MyVariant Identifiers: chr11:g.70319207T>C (hg19) ; chr11:g.70473102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473102T>C , CM000673.2:g.70473102T>C	GRCh38
NC_000011.9:g.70319207T>C , CM000673.1:g.70319207T>C	GRCh37
NC_000011.8:g.69996855T>C	NCBI36
NG_042866.1:g.656695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3550A>G	ENSP00000345193.7:p.Ile1184Val
ENST00000412252.6:c.1095A>G	ENSP00000414876.2:n.1095A>G
ENST00000601538.6:c.5317A>G MANE Select	ENSP00000469689.2:p.Ile1773Val
ENST00000654939.1:c.2826A>G
ENST00000656230.1:c.4180A>G	ENSP00000499561.1:p.Ile1394Val
ENST00000659264.1:c.3607A>G	ENSP00000499270.1:p.Ile1203Val
ENST00000338508.8:c.3553A>G	ENSP00000345193.6:p.Ile1185Val
ENST00000357171.7:c.*321A>G	ENSP00000349694.4:n.*321A>G
ENST00000409161.5:c.3529A>G	ENSP00000386491.1:p.Ile1177Val
ENST00000412252.5:c.1093A>G
ENST00000423696.6:c.4180A>G	ENSP00000394536.2:p.Ile1394Val
ENST00000424924.5:c.3154A>G	ENSP00000402944.1:p.Ile1052Val
ENST00000449833.6:c.3553A>G	ENSP00000399423.3:p.Ile1185Val
ENST00000601538.5:c.5317A>G	ENSP00000469689.2:p.Ile1773Val
ENST00000606715.3:n.2069A>G
NM_012309.4:c.5317A>G	NP_036441.2:p.Ile1773Val
NM_133266.4:c.3553A>G	NP_573573.2:p.Ile1185Val
NR_110766.1:n.1171A>G
XM_005277930.2:c.5317A>G	XP_005277987.1:p.Ile1773Val
XM_005277932.2:c.4180A>G	XP_005277989.1:p.Ile1394Val
XM_006718478.2:c.5287A>G	XP_006718541.1:p.Ile1763Val
XM_011544854.1:c.5329A>G	XP_011543156.1:p.Ile1777Val
XM_011544855.1:c.5308A>G	XP_011543157.1:p.Ile1770Val
XM_011544856.1:c.5302A>G	XP_011543158.1:p.Ile1768Val
XM_011544857.1:c.5281A>G	XP_011543159.1:p.Ile1761Val
XM_011544859.1:c.4192A>G	XP_011543161.1:p.Ile1398Val
XM_005277932.3:c.4180A>G	XP_005277989.1:p.Ile1394Val
XM_017017387.1:c.5317A>G	XP_016872876.1:p.Ile1773Val
XM_017017388.1:c.5317A>G	XP_016872877.1:p.Ile1773Val
XM_017017389.1:c.5290A>G	XP_016872878.1:p.Ile1764Val
XM_017017390.1:c.3607A>G	XP_016872879.1:p.Ile1203Val
NM_133266.5:c.3553A>G	NP_573573.2:p.Ile1185Val
NR_110766.2:n.1172A>G
NM_001379226.1:c.4180A>G	NP_001366155.1:p.Ile1394Val
NM_012309.5:c.5317A>G MANE Select	NP_036441.2:p.Ile1773Val