Canonical Allele Identifier: CA381675583

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473108-G-C
• MyVariant Identifiers: chr11:g.70319213G>C (hg19) ; chr11:g.70473108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473108G>C , CM000673.2:g.70473108G>C	GRCh38
NC_000011.9:g.70319213G>C , CM000673.1:g.70319213G>C	GRCh37
NC_000011.8:g.69996861G>C	NCBI36
NG_042866.1:g.656689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3544C>G	ENSP00000345193.7:p.Gln1182Glu
ENST00000412252.6:c.1089C>G	ENSP00000414876.2:n.1089C>G
ENST00000601538.6:c.5311C>G MANE Select	ENSP00000469689.2:p.Gln1771Glu
ENST00000654939.1:c.2820C>G
ENST00000656230.1:c.4174C>G	ENSP00000499561.1:p.Gln1392Glu
ENST00000659264.1:c.3601C>G	ENSP00000499270.1:p.Gln1201Glu
ENST00000338508.8:c.3547C>G	ENSP00000345193.6:p.Gln1183Glu
ENST00000357171.7:c.*315C>G	ENSP00000349694.4:n.*315C>G
ENST00000409161.5:c.3523C>G	ENSP00000386491.1:p.Gln1175Glu
ENST00000412252.5:c.1087C>G
ENST00000423696.6:c.4174C>G	ENSP00000394536.2:p.Gln1392Glu
ENST00000424924.5:c.3148C>G	ENSP00000402944.1:p.Gln1050Glu
ENST00000449833.6:c.3547C>G	ENSP00000399423.3:p.Gln1183Glu
ENST00000601538.5:c.5311C>G	ENSP00000469689.2:p.Gln1771Glu
ENST00000606715.3:n.2063C>G
NM_012309.4:c.5311C>G	NP_036441.2:p.Gln1771Glu
NM_133266.4:c.3547C>G	NP_573573.2:p.Gln1183Glu
NR_110766.1:n.1165C>G
XM_005277930.2:c.5311C>G	XP_005277987.1:p.Gln1771Glu
XM_005277932.2:c.4174C>G	XP_005277989.1:p.Gln1392Glu
XM_006718478.2:c.5281C>G	XP_006718541.1:p.Gln1761Glu
XM_011544854.1:c.5323C>G	XP_011543156.1:p.Gln1775Glu
XM_011544855.1:c.5302C>G	XP_011543157.1:p.Gln1768Glu
XM_011544856.1:c.5296C>G	XP_011543158.1:p.Gln1766Glu
XM_011544857.1:c.5275C>G	XP_011543159.1:p.Gln1759Glu
XM_011544859.1:c.4186C>G	XP_011543161.1:p.Gln1396Glu
XM_005277932.3:c.4174C>G	XP_005277989.1:p.Gln1392Glu
XM_017017387.1:c.5311C>G	XP_016872876.1:p.Gln1771Glu
XM_017017388.1:c.5311C>G	XP_016872877.1:p.Gln1771Glu
XM_017017389.1:c.5284C>G	XP_016872878.1:p.Gln1762Glu
XM_017017390.1:c.3601C>G	XP_016872879.1:p.Gln1201Glu
NM_133266.5:c.3547C>G	NP_573573.2:p.Gln1183Glu
NR_110766.2:n.1166C>G
NM_001379226.1:c.4174C>G	NP_001366155.1:p.Gln1392Glu
NM_012309.5:c.5311C>G MANE Select	NP_036441.2:p.Gln1771Glu