Canonical Allele Identifier: CA475471164

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149106
• gnomAD v2: 11-70319261-A-G
• MyVariant Identifiers: chr11:g.70319261A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473156A>G , CM000673.2:g.70473156A>G	GRCh38
NC_000011.9:g.70319261A>G , CM000673.1:g.70319261A>G	GRCh37
NC_000011.8:g.69996909A>G	NCBI36
NG_042866.1:g.656641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3496T>C	ENSP00000345193.7:p.Leu1166=
ENST00000412252.6:c.1041T>C	ENSP00000414876.2:n.1041T>C
ENST00000601538.6:c.5263T>C MANE Select	ENSP00000469689.2:p.Leu1755=
ENST00000654939.1:c.2772T>C
ENST00000656230.1:c.4126T>C	ENSP00000499561.1:p.Leu1376=
ENST00000659264.1:c.3553T>C	ENSP00000499270.1:p.Leu1185=
ENST00000338508.8:c.3499T>C	ENSP00000345193.6:p.Leu1167=
ENST00000357171.7:c.*267T>C	ENSP00000349694.4:n.*267T>C
ENST00000409161.5:c.3475T>C	ENSP00000386491.1:p.Leu1159=
ENST00000412252.5:c.1039T>C
ENST00000423696.6:c.4126T>C	ENSP00000394536.2:p.Leu1376=
ENST00000424924.5:c.3100T>C	ENSP00000402944.1:p.Leu1034=
ENST00000449833.6:c.3499T>C	ENSP00000399423.3:p.Leu1167=
ENST00000601538.5:c.5263T>C	ENSP00000469689.2:p.Leu1755=
ENST00000606715.3:n.2015T>C
NM_012309.4:c.5263T>C	NP_036441.2:p.Leu1755=
NM_133266.4:c.3499T>C	NP_573573.2:p.Leu1167=
NR_110766.1:n.1117T>C
XM_005277930.2:c.5263T>C	XP_005277987.1:p.Leu1755=
XM_005277932.2:c.4126T>C	XP_005277989.1:p.Leu1376=
XM_006718478.2:c.5233T>C	XP_006718541.1:p.Leu1745=
XM_011544854.1:c.5275T>C	XP_011543156.1:p.Leu1759=
XM_011544855.1:c.5254T>C	XP_011543157.1:p.Leu1752=
XM_011544856.1:c.5248T>C	XP_011543158.1:p.Leu1750=
XM_011544857.1:c.5227T>C	XP_011543159.1:p.Leu1743=
XM_011544859.1:c.4138T>C	XP_011543161.1:p.Leu1380=
XM_005277932.3:c.4126T>C	XP_005277989.1:p.Leu1376=
XM_017017387.1:c.5263T>C	XP_016872876.1:p.Leu1755=
XM_017017388.1:c.5263T>C	XP_016872877.1:p.Leu1755=
XM_017017389.1:c.5236T>C	XP_016872878.1:p.Leu1746=
XM_017017390.1:c.3553T>C	XP_016872879.1:p.Leu1185=
NM_133266.5:c.3499T>C	NP_573573.2:p.Leu1167=
NR_110766.2:n.1118T>C
NM_001379226.1:c.4126T>C	NP_001366155.1:p.Leu1376=
NM_012309.5:c.5263T>C MANE Select	NP_036441.2:p.Leu1755=