Canonical Allele Identifier: CA475471163

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319259C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473154C>T , CM000673.2:g.70473154C>T	GRCh38
NC_000011.9:g.70319259C>T , CM000673.1:g.70319259C>T	GRCh37
NC_000011.8:g.69996907C>T	NCBI36
NG_042866.1:g.656643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3498G>A	ENSP00000345193.7:p.Leu1166=
ENST00000412252.6:c.1043G>A	ENSP00000414876.2:n.1043G>A
ENST00000601538.6:c.5265G>A MANE Select	ENSP00000469689.2:p.Leu1755=
ENST00000654939.1:c.2774G>A
ENST00000656230.1:c.4128G>A	ENSP00000499561.1:p.Leu1376=
ENST00000659264.1:c.3555G>A	ENSP00000499270.1:p.Leu1185=
ENST00000338508.8:c.3501G>A	ENSP00000345193.6:p.Leu1167=
ENST00000357171.7:c.*269G>A	ENSP00000349694.4:n.*269G>A
ENST00000409161.5:c.3477G>A	ENSP00000386491.1:p.Leu1159=
ENST00000412252.5:c.1041G>A
ENST00000423696.6:c.4128G>A	ENSP00000394536.2:p.Leu1376=
ENST00000424924.5:c.3102G>A	ENSP00000402944.1:p.Leu1034=
ENST00000449833.6:c.3501G>A	ENSP00000399423.3:p.Leu1167=
ENST00000601538.5:c.5265G>A	ENSP00000469689.2:p.Leu1755=
ENST00000606715.3:n.2017G>A
NM_012309.4:c.5265G>A	NP_036441.2:p.Leu1755=
NM_133266.4:c.3501G>A	NP_573573.2:p.Leu1167=
NR_110766.1:n.1119G>A
XM_005277930.2:c.5265G>A	XP_005277987.1:p.Leu1755=
XM_005277932.2:c.4128G>A	XP_005277989.1:p.Leu1376=
XM_006718478.2:c.5235G>A	XP_006718541.1:p.Leu1745=
XM_011544854.1:c.5277G>A	XP_011543156.1:p.Leu1759=
XM_011544855.1:c.5256G>A	XP_011543157.1:p.Leu1752=
XM_011544856.1:c.5250G>A	XP_011543158.1:p.Leu1750=
XM_011544857.1:c.5229G>A	XP_011543159.1:p.Leu1743=
XM_011544859.1:c.4140G>A	XP_011543161.1:p.Leu1380=
XM_005277932.3:c.4128G>A	XP_005277989.1:p.Leu1376=
XM_017017387.1:c.5265G>A	XP_016872876.1:p.Leu1755=
XM_017017388.1:c.5265G>A	XP_016872877.1:p.Leu1755=
XM_017017389.1:c.5238G>A	XP_016872878.1:p.Leu1746=
XM_017017390.1:c.3555G>A	XP_016872879.1:p.Leu1185=
NM_133266.5:c.3501G>A	NP_573573.2:p.Leu1167=
NR_110766.2:n.1120G>A
NM_001379226.1:c.4128G>A	NP_001366155.1:p.Leu1376=
NM_012309.5:c.5265G>A MANE Select	NP_036441.2:p.Leu1755=