Canonical Allele Identifier: CA6162095
Gene: SHANK2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.71094656C>T
GRCh37 chr11:g.70805702C>T
Revel Score:
ENST00000338508 0.095
ENST00000457074 0.095
ENST00000413503 0.095
gnomAD v2:
11:70805702 C / T
gnomAD v3:
11:71094656 C / T
gnomAD v4:
chr11-71094656-C-T
Joint Max Group AF 0.00824293 (SAS)
Genomes Max Group AF 0.00643657 (SAS)
Exomes Max Group AF 0.00824418 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71094656C>T , CM000673.2:g.71094656C>T GRCh38
NC_000011.9:g.70805702C>T , CM000673.1:g.70805702C>T GRCh37
NC_000011.8:g.70483350C>T NCBI36
NG_042866.1:g.135141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000601538.6:c.625G>A MANE Select ENSP00000469689.2:p.Asp209Asn
ENST00000458632.2:c.33G>A
ENST00000601538.5:c.625G>A ENSP00000469689.2:p.Asp209Asn
ENST00000608988.5:c.*188G>A ENSP00000476264.2:n.*188G>A
NM_012309.4:c.625G>A NP_036441.2:p.Asp209Asn
XM_005277930.2:c.625G>A XP_005277987.1:p.Asp209Asn
XM_006718478.2:c.625G>A XP_006718541.1:p.Asp209Asn
XM_011544854.1:c.625G>A XP_011543156.1:p.Asp209Asn
XM_011544855.1:c.625G>A XP_011543157.1:p.Asp209Asn
XM_011544856.1:c.625G>A XP_011543158.1:p.Asp209Asn
XM_011544857.1:c.625G>A XP_011543159.1:p.Asp209Asn
XM_011544858.1:c.625G>A XP_011543160.1:p.Asp209Asn
XM_017017387.1:c.625G>A XP_016872876.1:p.Asp209Asn
XM_017017388.1:c.625G>A XP_016872877.1:p.Asp209Asn
XM_017017389.1:c.625G>A XP_016872878.1:p.Asp209Asn
NM_012309.5:c.625G>A MANE Select NP_036441.2:p.Asp209Asn
Search 100 bp 5'
Search 100 bp 3'