Canonical Allele Identifier: CA10643754

Gene: COL4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110307440A>G , CM000675.2:g.110307440A>G	GRCh38
NC_000013.10:g.110959787A>G , CM000675.1:g.110959787A>G	GRCh37
NC_000013.9:g.109757788A>G	NCBI36
NG_011544.2:g.4710T>C
NG_032137.1:g.5157A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.-133A>G MANE Select	NP_001837.2:n.-133A>G
ENST00000360467.7:c.-133A>G MANE Select	ENSP00000353654.5:n.-133A>G
NM_001846.2:c.-133A>G	NP_001837.2:n.-133A>G
NM_001846.3:c.-133A>G	NP_001837.2:n.-133A>G
ENST00000360467.5:c.-133A>G	ENSP00000353654.5:n.-133A>G
ENST00000400163.6:c.-44-420A>G	ENSP00000383027.2:n.-44-420A>G
ENST00000400163.7:c.-44-420A>G	ENSP00000383027.3:n.-44-420A>G
ENST00000480771.5:n.174A>G
ENST00000649101.1:c.-133A>G	ENSP00000497869.1:n.-133A>G
ENST00000650540.1:c.-133A>G	ENSP00000497878.1:n.-133A>G