Canonical Allele Identifier: CA381676954

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473439-T-C
• MyVariant Identifiers: chr11:g.70319544T>C (hg19) ; chr11:g.70473439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473439T>C , CM000673.2:g.70473439T>C	GRCh38
NC_000011.9:g.70319544T>C , CM000673.1:g.70319544T>C	GRCh37
NC_000011.8:g.69997192T>C	NCBI36
NG_042866.1:g.656358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213A>G	ENSP00000345193.7:p.Arg1071=
ENST00000412252.6:c.758A>G	ENSP00000414876.2:p.Glu253Gly
ENST00000601538.6:c.4980A>G MANE Select	ENSP00000469689.2:p.Arg1660=
ENST00000654939.1:c.2489A>G
ENST00000656230.1:c.3843A>G	ENSP00000499561.1:p.Arg1281=
ENST00000659264.1:c.3270A>G	ENSP00000499270.1:p.Arg1090=
ENST00000338508.8:c.3216A>G	ENSP00000345193.6:p.Arg1072=
ENST00000357171.7:c.719A>G	ENSP00000349694.4:p.Glu240Gly
ENST00000409161.5:c.3192A>G	ENSP00000386491.1:p.Arg1064=
ENST00000412252.5:c.756A>G
ENST00000423696.6:c.3843A>G	ENSP00000394536.2:p.Arg1281=
ENST00000424924.5:c.2817A>G	ENSP00000402944.1:p.Arg939=
ENST00000449833.6:c.3216A>G	ENSP00000399423.3:p.Arg1072=
ENST00000601538.5:c.4980A>G	ENSP00000469689.2:p.Arg1660=
ENST00000606715.3:n.1732A>G
NM_012309.4:c.4980A>G	NP_036441.2:p.Arg1660=
NM_133266.4:c.3216A>G	NP_573573.2:p.Arg1072=
NR_110766.1:n.834A>G
XM_005277930.2:c.4980A>G	XP_005277987.1:p.Arg1660=
XM_005277932.2:c.3843A>G	XP_005277989.1:p.Arg1281=
XM_006718478.2:c.4950A>G	XP_006718541.1:p.Arg1650=
XM_011544854.1:c.4992A>G	XP_011543156.1:p.Arg1664=
XM_011544855.1:c.4971A>G	XP_011543157.1:p.Arg1657=
XM_011544856.1:c.4965A>G	XP_011543158.1:p.Arg1655=
XM_011544857.1:c.4944A>G	XP_011543159.1:p.Arg1648=
XM_011544859.1:c.3855A>G	XP_011543161.1:p.Arg1285=
XM_005277932.3:c.3843A>G	XP_005277989.1:p.Arg1281=
XM_017017387.1:c.4980A>G	XP_016872876.1:p.Arg1660=
XM_017017388.1:c.4980A>G	XP_016872877.1:p.Arg1660=
XM_017017389.1:c.4953A>G	XP_016872878.1:p.Arg1651=
XM_017017390.1:c.3270A>G	XP_016872879.1:p.Arg1090=
NM_133266.5:c.3216A>G	NP_573573.2:p.Arg1072=
NR_110766.2:n.835A>G
NM_001379226.1:c.3843A>G	NP_001366155.1:p.Arg1281=
NM_012309.5:c.4980A>G MANE Select	NP_036441.2:p.Arg1660=