Canonical Allele Identifier: CA6160731

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 2642069
• ClinVar RCV Id: RCV003409331
• dbSNP Id: rs782764781
• ExAC: 11:70319251 G / A
• gnomAD v2: 11-70319251-G-A
• gnomAD v3: 11-70473146-G-A
• gnomAD v4: 11-70473146-G-A
• MyVariant Identifiers: chr11:g.70319251G>A (hg19) ; chr11:g.70473146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473146G>A , CM000673.2:g.70473146G>A	GRCh38
NC_000011.9:g.70319251G>A , CM000673.1:g.70319251G>A	GRCh37
NC_000011.8:g.69996899G>A	NCBI36
NG_042866.1:g.656651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3506C>T	ENSP00000345193.7:p.Ala1169Val
ENST00000412252.6:c.1051C>T	ENSP00000414876.2:n.1051C>T
ENST00000601538.6:c.5273C>T MANE Select	ENSP00000469689.2:p.Ala1758Val
ENST00000654939.1:c.2782C>T
ENST00000656230.1:c.4136C>T	ENSP00000499561.1:p.Ala1379Val
ENST00000659264.1:c.3563C>T	ENSP00000499270.1:p.Ala1188Val
ENST00000338508.8:c.3509C>T	ENSP00000345193.6:p.Ala1170Val
ENST00000357171.7:c.*277C>T	ENSP00000349694.4:n.*277C>T
ENST00000409161.5:c.3485C>T	ENSP00000386491.1:p.Ala1162Val
ENST00000412252.5:c.1049C>T
ENST00000423696.6:c.4136C>T	ENSP00000394536.2:p.Ala1379Val
ENST00000424924.5:c.3110C>T	ENSP00000402944.1:p.Ala1037Val
ENST00000449833.6:c.3509C>T	ENSP00000399423.3:p.Ala1170Val
ENST00000601538.5:c.5273C>T	ENSP00000469689.2:p.Ala1758Val
ENST00000606715.3:n.2025C>T
NM_012309.4:c.5273C>T	NP_036441.2:p.Ala1758Val
NM_133266.4:c.3509C>T	NP_573573.2:p.Ala1170Val
NR_110766.1:n.1127C>T
XM_005277930.2:c.5273C>T	XP_005277987.1:p.Ala1758Val
XM_005277932.2:c.4136C>T	XP_005277989.1:p.Ala1379Val
XM_006718478.2:c.5243C>T	XP_006718541.1:p.Ala1748Val
XM_011544854.1:c.5285C>T	XP_011543156.1:p.Ala1762Val
XM_011544855.1:c.5264C>T	XP_011543157.1:p.Ala1755Val
XM_011544856.1:c.5258C>T	XP_011543158.1:p.Ala1753Val
XM_011544857.1:c.5237C>T	XP_011543159.1:p.Ala1746Val
XM_011544859.1:c.4148C>T	XP_011543161.1:p.Ala1383Val
XM_005277932.3:c.4136C>T	XP_005277989.1:p.Ala1379Val
XM_017017387.1:c.5273C>T	XP_016872876.1:p.Ala1758Val
XM_017017388.1:c.5273C>T	XP_016872877.1:p.Ala1758Val
XM_017017389.1:c.5246C>T	XP_016872878.1:p.Ala1749Val
XM_017017390.1:c.3563C>T	XP_016872879.1:p.Ala1188Val
NM_133266.5:c.3509C>T	NP_573573.2:p.Ala1170Val
NR_110766.2:n.1128C>T
NM_001379226.1:c.4136C>T	NP_001366155.1:p.Ala1379Val
NM_012309.5:c.5273C>T MANE Select	NP_036441.2:p.Ala1758Val