Canonical Allele Identifier: CA6160727

Gene: SHANK2

Linked Data

• dbSNP Id: rs782046119
• ExAC: 11:70319239 C / G
• gnomAD v2: 11-70319239-C-G
• gnomAD v4: 11-70473134-C-G
• MyVariant Identifiers: chr11:g.70319239C>G (hg19) ; chr11:g.70473134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473134C>G , CM000673.2:g.70473134C>G	GRCh38
NC_000011.9:g.70319239C>G , CM000673.1:g.70319239C>G	GRCh37
NC_000011.8:g.69996887C>G	NCBI36
NG_042866.1:g.656663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3518G>C	ENSP00000345193.7:p.Arg1173Thr
ENST00000412252.6:c.1063G>C	ENSP00000414876.2:n.1063G>C
ENST00000601538.6:c.5285G>C MANE Select	ENSP00000469689.2:p.Arg1762Thr
ENST00000654939.1:c.2794G>C
ENST00000656230.1:c.4148G>C	ENSP00000499561.1:p.Arg1383Thr
ENST00000659264.1:c.3575G>C	ENSP00000499270.1:p.Arg1192Thr
ENST00000338508.8:c.3521G>C	ENSP00000345193.6:p.Arg1174Thr
ENST00000357171.7:c.*289G>C	ENSP00000349694.4:n.*289G>C
ENST00000409161.5:c.3497G>C	ENSP00000386491.1:p.Arg1166Thr
ENST00000412252.5:c.1061G>C
ENST00000423696.6:c.4148G>C	ENSP00000394536.2:p.Arg1383Thr
ENST00000424924.5:c.3122G>C	ENSP00000402944.1:p.Arg1041Thr
ENST00000449833.6:c.3521G>C	ENSP00000399423.3:p.Arg1174Thr
ENST00000601538.5:c.5285G>C	ENSP00000469689.2:p.Arg1762Thr
ENST00000606715.3:n.2037G>C
NM_012309.4:c.5285G>C	NP_036441.2:p.Arg1762Thr
NM_133266.4:c.3521G>C	NP_573573.2:p.Arg1174Thr
NR_110766.1:n.1139G>C
XM_005277930.2:c.5285G>C	XP_005277987.1:p.Arg1762Thr
XM_005277932.2:c.4148G>C	XP_005277989.1:p.Arg1383Thr
XM_006718478.2:c.5255G>C	XP_006718541.1:p.Arg1752Thr
XM_011544854.1:c.5297G>C	XP_011543156.1:p.Arg1766Thr
XM_011544855.1:c.5276G>C	XP_011543157.1:p.Arg1759Thr
XM_011544856.1:c.5270G>C	XP_011543158.1:p.Arg1757Thr
XM_011544857.1:c.5249G>C	XP_011543159.1:p.Arg1750Thr
XM_011544859.1:c.4160G>C	XP_011543161.1:p.Arg1387Thr
XM_005277932.3:c.4148G>C	XP_005277989.1:p.Arg1383Thr
XM_017017387.1:c.5285G>C	XP_016872876.1:p.Arg1762Thr
XM_017017388.1:c.5285G>C	XP_016872877.1:p.Arg1762Thr
XM_017017389.1:c.5258G>C	XP_016872878.1:p.Arg1753Thr
XM_017017390.1:c.3575G>C	XP_016872879.1:p.Arg1192Thr
NM_133266.5:c.3521G>C	NP_573573.2:p.Arg1174Thr
NR_110766.2:n.1140G>C
NM_001379226.1:c.4148G>C	NP_001366155.1:p.Arg1383Thr
NM_012309.5:c.5285G>C MANE Select	NP_036441.2:p.Arg1762Thr