Canonical Allele Identifier: CA475470772

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473355-G-T
• MyVariant Identifiers: chr11:g.70319460G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473355G>T , CM000673.2:g.70473355G>T	GRCh38
NC_000011.9:g.70319460G>T , CM000673.1:g.70319460G>T	GRCh37
NC_000011.8:g.69997108G>T	NCBI36
NG_042866.1:g.656442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3297C>A	ENSP00000345193.7:p.Ile1099=
ENST00000412252.6:c.842C>A	ENSP00000414876.2:n.842C>A
ENST00000601538.6:c.5064C>A MANE Select	ENSP00000469689.2:p.Ile1688=
ENST00000654939.1:c.2573C>A
ENST00000656230.1:c.3927C>A	ENSP00000499561.1:p.Ile1309=
ENST00000659264.1:c.3354C>A	ENSP00000499270.1:p.Ile1118=
ENST00000338508.8:c.3300C>A	ENSP00000345193.6:p.Ile1100=
ENST00000357171.7:c.*68C>A	ENSP00000349694.4:n.*68C>A
ENST00000409161.5:c.3276C>A	ENSP00000386491.1:p.Ile1092=
ENST00000412252.5:c.840C>A
ENST00000423696.6:c.3927C>A	ENSP00000394536.2:p.Ile1309=
ENST00000424924.5:c.2901C>A	ENSP00000402944.1:p.Ile967=
ENST00000449833.6:c.3300C>A	ENSP00000399423.3:p.Ile1100=
ENST00000601538.5:c.5064C>A	ENSP00000469689.2:p.Ile1688=
ENST00000606715.3:n.1816C>A
NM_012309.4:c.5064C>A	NP_036441.2:p.Ile1688=
NM_133266.4:c.3300C>A	NP_573573.2:p.Ile1100=
NR_110766.1:n.918C>A
XM_005277930.2:c.5064C>A	XP_005277987.1:p.Ile1688=
XM_005277932.2:c.3927C>A	XP_005277989.1:p.Ile1309=
XM_006718478.2:c.5034C>A	XP_006718541.1:p.Ile1678=
XM_011544854.1:c.5076C>A	XP_011543156.1:p.Ile1692=
XM_011544855.1:c.5055C>A	XP_011543157.1:p.Ile1685=
XM_011544856.1:c.5049C>A	XP_011543158.1:p.Ile1683=
XM_011544857.1:c.5028C>A	XP_011543159.1:p.Ile1676=
XM_011544859.1:c.3939C>A	XP_011543161.1:p.Ile1313=
XM_005277932.3:c.3927C>A	XP_005277989.1:p.Ile1309=
XM_017017387.1:c.5064C>A	XP_016872876.1:p.Ile1688=
XM_017017388.1:c.5064C>A	XP_016872877.1:p.Ile1688=
XM_017017389.1:c.5037C>A	XP_016872878.1:p.Ile1679=
XM_017017390.1:c.3354C>A	XP_016872879.1:p.Ile1118=
NM_133266.5:c.3300C>A	NP_573573.2:p.Ile1100=
NR_110766.2:n.919C>A
NM_001379226.1:c.3927C>A	NP_001366155.1:p.Ile1309=
NM_012309.5:c.5064C>A MANE Select	NP_036441.2:p.Ile1688=