Canonical Allele Identifier: CA381675560

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473106-C-G
• MyVariant Identifiers: chr11:g.70319211C>G (hg19) ; chr11:g.70473106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473106C>G , CM000673.2:g.70473106C>G	GRCh38
NC_000011.9:g.70319211C>G , CM000673.1:g.70319211C>G	GRCh37
NC_000011.8:g.69996859C>G	NCBI36
NG_042866.1:g.656691G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3546G>C	ENSP00000345193.7:p.Gln1182His
ENST00000412252.6:c.1091G>C	ENSP00000414876.2:n.1091G>C
ENST00000601538.6:c.5313G>C MANE Select	ENSP00000469689.2:p.Gln1771His
ENST00000654939.1:c.2822G>C
ENST00000656230.1:c.4176G>C	ENSP00000499561.1:p.Gln1392His
ENST00000659264.1:c.3603G>C	ENSP00000499270.1:p.Gln1201His
ENST00000338508.8:c.3549G>C	ENSP00000345193.6:p.Gln1183His
ENST00000357171.7:c.*317G>C	ENSP00000349694.4:n.*317G>C
ENST00000409161.5:c.3525G>C	ENSP00000386491.1:p.Gln1175His
ENST00000412252.5:c.1089G>C
ENST00000423696.6:c.4176G>C	ENSP00000394536.2:p.Gln1392His
ENST00000424924.5:c.3150G>C	ENSP00000402944.1:p.Gln1050His
ENST00000449833.6:c.3549G>C	ENSP00000399423.3:p.Gln1183His
ENST00000601538.5:c.5313G>C	ENSP00000469689.2:p.Gln1771His
ENST00000606715.3:n.2065G>C
NM_012309.4:c.5313G>C	NP_036441.2:p.Gln1771His
NM_133266.4:c.3549G>C	NP_573573.2:p.Gln1183His
NR_110766.1:n.1167G>C
XM_005277930.2:c.5313G>C	XP_005277987.1:p.Gln1771His
XM_005277932.2:c.4176G>C	XP_005277989.1:p.Gln1392His
XM_006718478.2:c.5283G>C	XP_006718541.1:p.Gln1761His
XM_011544854.1:c.5325G>C	XP_011543156.1:p.Gln1775His
XM_011544855.1:c.5304G>C	XP_011543157.1:p.Gln1768His
XM_011544856.1:c.5298G>C	XP_011543158.1:p.Gln1766His
XM_011544857.1:c.5277G>C	XP_011543159.1:p.Gln1759His
XM_011544859.1:c.4188G>C	XP_011543161.1:p.Gln1396His
XM_005277932.3:c.4176G>C	XP_005277989.1:p.Gln1392His
XM_017017387.1:c.5313G>C	XP_016872876.1:p.Gln1771His
XM_017017388.1:c.5313G>C	XP_016872877.1:p.Gln1771His
XM_017017389.1:c.5286G>C	XP_016872878.1:p.Gln1762His
XM_017017390.1:c.3603G>C	XP_016872879.1:p.Gln1201His
NM_133266.5:c.3549G>C	NP_573573.2:p.Gln1183His
NR_110766.2:n.1168G>C
NM_001379226.1:c.4176G>C	NP_001366155.1:p.Gln1392His
NM_012309.5:c.5313G>C MANE Select	NP_036441.2:p.Gln1771His