Canonical Allele Identifier: CA381676034

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473186-T-G
• MyVariant Identifiers: chr11:g.70319291T>G (hg19) ; chr11:g.70473186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473186T>G , CM000673.2:g.70473186T>G	GRCh38
NC_000011.9:g.70319291T>G , CM000673.1:g.70319291T>G	GRCh37
NC_000011.8:g.69996939T>G	NCBI36
NG_042866.1:g.656611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3466A>C	ENSP00000345193.7:p.Ser1156Arg
ENST00000412252.6:c.1011A>C	ENSP00000414876.2:n.1011A>C
ENST00000601538.6:c.5233A>C MANE Select	ENSP00000469689.2:p.Ser1745Arg
ENST00000654939.1:c.2742A>C
ENST00000656230.1:c.4096A>C	ENSP00000499561.1:p.Ser1366Arg
ENST00000659264.1:c.3523A>C	ENSP00000499270.1:p.Ser1175Arg
ENST00000338508.8:c.3469A>C	ENSP00000345193.6:p.Ser1157Arg
ENST00000357171.7:c.*237A>C	ENSP00000349694.4:n.*237A>C
ENST00000409161.5:c.3445A>C	ENSP00000386491.1:p.Ser1149Arg
ENST00000412252.5:c.1009A>C
ENST00000423696.6:c.4096A>C	ENSP00000394536.2:p.Ser1366Arg
ENST00000424924.5:c.3070A>C	ENSP00000402944.1:p.Ser1024Arg
ENST00000449833.6:c.3469A>C	ENSP00000399423.3:p.Ser1157Arg
ENST00000601538.5:c.5233A>C	ENSP00000469689.2:p.Ser1745Arg
ENST00000606715.3:n.1985A>C
NM_012309.4:c.5233A>C	NP_036441.2:p.Ser1745Arg
NM_133266.4:c.3469A>C	NP_573573.2:p.Ser1157Arg
NR_110766.1:n.1087A>C
XM_005277930.2:c.5233A>C	XP_005277987.1:p.Ser1745Arg
XM_005277932.2:c.4096A>C	XP_005277989.1:p.Ser1366Arg
XM_006718478.2:c.5203A>C	XP_006718541.1:p.Ser1735Arg
XM_011544854.1:c.5245A>C	XP_011543156.1:p.Ser1749Arg
XM_011544855.1:c.5224A>C	XP_011543157.1:p.Ser1742Arg
XM_011544856.1:c.5218A>C	XP_011543158.1:p.Ser1740Arg
XM_011544857.1:c.5197A>C	XP_011543159.1:p.Ser1733Arg
XM_011544859.1:c.4108A>C	XP_011543161.1:p.Ser1370Arg
XM_005277932.3:c.4096A>C	XP_005277989.1:p.Ser1366Arg
XM_017017387.1:c.5233A>C	XP_016872876.1:p.Ser1745Arg
XM_017017388.1:c.5233A>C	XP_016872877.1:p.Ser1745Arg
XM_017017389.1:c.5206A>C	XP_016872878.1:p.Ser1736Arg
XM_017017390.1:c.3523A>C	XP_016872879.1:p.Ser1175Arg
NM_133266.5:c.3469A>C	NP_573573.2:p.Ser1157Arg
NR_110766.2:n.1088A>C
NM_001379226.1:c.4096A>C	NP_001366155.1:p.Ser1366Arg
NM_012309.5:c.5233A>C MANE Select	NP_036441.2:p.Ser1745Arg