Canonical Allele Identifier: CA13823803

Gene: COL4A2 COL4A2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110506267T>C , CM000675.2:g.110506267T>C	GRCh38
NC_000013.10:g.111158614T>C , CM000675.1:g.111158614T>C	GRCh37
NC_000013.9:g.109956615T>C	NCBI36
NG_032137.1:g.203984T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.4403-148T>C (COL4A2) MANE Select	NP_001837.2:n.4403-148T>C
ENST00000360467.7:c.4403-148T>C (COL4A2) MANE Select	ENSP00000353654.5:n.4403-148T>C
NM_001846.2:c.4403-148T>C (COL4A2)	NP_001837.2:n.4403-148T>C
NM_001846.3:c.4403-148T>C (COL4A2)	NP_001837.2:n.4403-148T>C
NR_046583.1:n.186+1380A>G (COL4A2-AS1)
ENST00000360467.5:c.4403-148T>C (COL4A2)	ENSP00000353654.5:n.4403-148T>C
ENST00000649396.1:n.361-148T>C (COL4A2)
ENST00000650225.1:n.2058-148T>C (COL4A2)
ENST00000650322.1:n.335-148T>C (COL4A2)