Canonical Allele Identifier: CA388731780
Gene: COL4A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427143
ClinVar RCV Id: RCV000490216
dbSNP Id: rs1085307983

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110491286G>A , CM000675.2:g.110491286G>A GRCh38
NC_000013.10:g.111143633G>A , CM000675.1:g.111143633G>A GRCh37
NC_000013.9:g.109941634G>A NCBI36
NG_032137.1:g.189003G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360467.7:c.3400G>A MANE Select ENSP00000353654.5:p.Gly1134Arg
ENST00000650225.1:n.1055G>A
ENST00000360467.5:c.3400G>A ENSP00000353654.5:p.Gly1134Arg
NM_001846.2:c.3400G>A NP_001837.2:p.Gly1134Arg
NM_001846.3:c.3400G>A NP_001837.2:p.Gly1134Arg
NM_001846.4:c.3400G>A MANE Select NP_001837.2:p.Gly1134Arg