Canonical Allele Identifier: CA388736400

Gene: COL4A2 COL4A2-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110458821C>A , CM000675.2:g.110458821C>A	GRCh38
NC_000013.10:g.111111168C>A , CM000675.1:g.111111168C>A	GRCh37
NC_000013.9:g.109909169C>A	NCBI36
NG_032137.1:g.156538C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.1483C>A (COL4A2) MANE Select	NP_001837.2:p.Leu495Ile
ENST00000360467.7:c.1483C>A (COL4A2) MANE Select	ENSP00000353654.5:p.Leu495Ile
NM_001267044.1:c.73-535G>T (COL4A2-AS2)	NP_001253973.1:n.73-535G>T
NM_001846.2:c.1483C>A (COL4A2)	NP_001837.2:p.Leu495Ile
NM_001846.3:c.1483C>A (COL4A2)	NP_001837.2:p.Leu495Ile
NR_171022.1:n.266-535G>T (COL4A2-AS2)
ENST00000360467.5:c.1483C>A (COL4A2)	ENSP00000353654.5:p.Leu495Ile
ENST00000617564.2:c.740C>A (COL4A2)
XR_158875.3:n.620-535G>T (COL4A2-AS2)