Canonical Allele Identifier: CA381676296

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319377T>G (hg19) ; chr11:g.70473272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473272T>G , CM000673.2:g.70473272T>G	GRCh38
NC_000011.9:g.70319377T>G , CM000673.1:g.70319377T>G	GRCh37
NC_000011.8:g.69997025T>G	NCBI36
NG_042866.1:g.656525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3380A>C	ENSP00000345193.7:p.Glu1127Ala
ENST00000412252.6:c.925A>C	ENSP00000414876.2:n.925A>C
ENST00000601538.6:c.5147A>C MANE Select	ENSP00000469689.2:p.Glu1716Ala
ENST00000654939.1:c.2656A>C
ENST00000656230.1:c.4010A>C	ENSP00000499561.1:p.Glu1337Ala
ENST00000659264.1:c.3437A>C	ENSP00000499270.1:p.Glu1146Ala
ENST00000338508.8:c.3383A>C	ENSP00000345193.6:p.Glu1128Ala
ENST00000357171.7:c.*151A>C	ENSP00000349694.4:n.*151A>C
ENST00000409161.5:c.3359A>C	ENSP00000386491.1:p.Glu1120Ala
ENST00000412252.5:c.923A>C
ENST00000423696.6:c.4010A>C	ENSP00000394536.2:p.Glu1337Ala
ENST00000424924.5:c.2984A>C	ENSP00000402944.1:p.Glu995Ala
ENST00000449833.6:c.3383A>C	ENSP00000399423.3:p.Glu1128Ala
ENST00000601538.5:c.5147A>C	ENSP00000469689.2:p.Glu1716Ala
ENST00000606715.3:n.1899A>C
NM_012309.4:c.5147A>C	NP_036441.2:p.Glu1716Ala
NM_133266.4:c.3383A>C	NP_573573.2:p.Glu1128Ala
NR_110766.1:n.1001A>C
XM_005277930.2:c.5147A>C	XP_005277987.1:p.Glu1716Ala
XM_005277932.2:c.4010A>C	XP_005277989.1:p.Glu1337Ala
XM_006718478.2:c.5117A>C	XP_006718541.1:p.Glu1706Ala
XM_011544854.1:c.5159A>C	XP_011543156.1:p.Glu1720Ala
XM_011544855.1:c.5138A>C	XP_011543157.1:p.Glu1713Ala
XM_011544856.1:c.5132A>C	XP_011543158.1:p.Glu1711Ala
XM_011544857.1:c.5111A>C	XP_011543159.1:p.Glu1704Ala
XM_011544859.1:c.4022A>C	XP_011543161.1:p.Glu1341Ala
XM_005277932.3:c.4010A>C	XP_005277989.1:p.Glu1337Ala
XM_017017387.1:c.5147A>C	XP_016872876.1:p.Glu1716Ala
XM_017017388.1:c.5147A>C	XP_016872877.1:p.Glu1716Ala
XM_017017389.1:c.5120A>C	XP_016872878.1:p.Glu1707Ala
XM_017017390.1:c.3437A>C	XP_016872879.1:p.Glu1146Ala
NM_133266.5:c.3383A>C	NP_573573.2:p.Glu1128Ala
NR_110766.2:n.1002A>C
NM_001379226.1:c.4010A>C	NP_001366155.1:p.Glu1337Ala
NM_012309.5:c.5147A>C MANE Select	NP_036441.2:p.Glu1716Ala