Canonical Allele Identifier: CA7049483

Gene: COL4A2 COL4A2-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110457271G>C , CM000675.2:g.110457271G>C	GRCh38
NC_000013.10:g.111109618G>C , CM000675.1:g.111109618G>C	GRCh37
NC_000013.9:g.109907619G>C	NCBI36
NG_032137.1:g.154988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360467.7:c.1340-72G>C (COL4A2) MANE Select	ENSP00000353654.5:n.1340-72G>C
ENST00000617564.2:c.597-72G>C (COL4A2)
ENST00000360467.5:c.1340-72G>C (COL4A2)	ENSP00000353654.5:n.1340-72G>C
NM_001846.2:c.1340-72G>C (COL4A2)	NP_001837.2:n.1340-72G>C
XR_158875.3:n.1001C>G (COL4A2-AS2)
NM_001267044.1:c.454C>G (COL4A2-AS2)	NP_001253973.1:p.Gln152Glu
NM_001846.3:c.1340-72G>C (COL4A2)	NP_001837.2:n.1340-72G>C
NM_001846.4:c.1340-72G>C (COL4A2) MANE Select	NP_001837.2:n.1340-72G>C
NR_171022.1:n.647C>G (COL4A2-AS2)