Canonical Allele Identifier: CA6160733

Gene: SHANK2

Linked Data

• dbSNP Id: rs782543226
• ExAC: 11:70319266 A / G
• gnomAD v2: 11-70319266-A-G
• gnomAD v3: 11-70473161-A-G
• gnomAD v4: 11-70473161-A-G
• MyVariant Identifiers: chr11:g.70319266A>G (hg19) ; chr11:g.70473161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473161A>G , CM000673.2:g.70473161A>G	GRCh38
NC_000011.9:g.70319266A>G , CM000673.1:g.70319266A>G	GRCh37
NC_000011.8:g.69996914A>G	NCBI36
NG_042866.1:g.656636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3491T>C	ENSP00000345193.7:p.Phe1164Ser
ENST00000412252.6:c.1036T>C	ENSP00000414876.2:n.1036T>C
ENST00000601538.6:c.5258T>C MANE Select	ENSP00000469689.2:p.Phe1753Ser
ENST00000654939.1:c.2767T>C
ENST00000656230.1:c.4121T>C	ENSP00000499561.1:p.Phe1374Ser
ENST00000659264.1:c.3548T>C	ENSP00000499270.1:p.Phe1183Ser
ENST00000338508.8:c.3494T>C	ENSP00000345193.6:p.Phe1165Ser
ENST00000357171.7:c.*262T>C	ENSP00000349694.4:n.*262T>C
ENST00000409161.5:c.3470T>C	ENSP00000386491.1:p.Phe1157Ser
ENST00000412252.5:c.1034T>C
ENST00000423696.6:c.4121T>C	ENSP00000394536.2:p.Phe1374Ser
ENST00000424924.5:c.3095T>C	ENSP00000402944.1:p.Phe1032Ser
ENST00000449833.6:c.3494T>C	ENSP00000399423.3:p.Phe1165Ser
ENST00000601538.5:c.5258T>C	ENSP00000469689.2:p.Phe1753Ser
ENST00000606715.3:n.2010T>C
NM_012309.4:c.5258T>C	NP_036441.2:p.Phe1753Ser
NM_133266.4:c.3494T>C	NP_573573.2:p.Phe1165Ser
NR_110766.1:n.1112T>C
XM_005277930.2:c.5258T>C	XP_005277987.1:p.Phe1753Ser
XM_005277932.2:c.4121T>C	XP_005277989.1:p.Phe1374Ser
XM_006718478.2:c.5228T>C	XP_006718541.1:p.Phe1743Ser
XM_011544854.1:c.5270T>C	XP_011543156.1:p.Phe1757Ser
XM_011544855.1:c.5249T>C	XP_011543157.1:p.Phe1750Ser
XM_011544856.1:c.5243T>C	XP_011543158.1:p.Phe1748Ser
XM_011544857.1:c.5222T>C	XP_011543159.1:p.Phe1741Ser
XM_011544859.1:c.4133T>C	XP_011543161.1:p.Phe1378Ser
XM_005277932.3:c.4121T>C	XP_005277989.1:p.Phe1374Ser
XM_017017387.1:c.5258T>C	XP_016872876.1:p.Phe1753Ser
XM_017017388.1:c.5258T>C	XP_016872877.1:p.Phe1753Ser
XM_017017389.1:c.5231T>C	XP_016872878.1:p.Phe1744Ser
XM_017017390.1:c.3548T>C	XP_016872879.1:p.Phe1183Ser
NM_133266.5:c.3494T>C	NP_573573.2:p.Phe1165Ser
NR_110766.2:n.1113T>C
NM_001379226.1:c.4121T>C	NP_001366155.1:p.Phe1374Ser
NM_012309.5:c.5258T>C MANE Select	NP_036441.2:p.Phe1753Ser