Canonical Allele Identifier: CA388738549

Gene: COL4A2 COL4A2-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110462175T>C , CM000675.2:g.110462175T>C	GRCh38
NC_000013.10:g.111114522T>C , CM000675.1:g.111114522T>C	GRCh37
NC_000013.9:g.109912523T>C	NCBI36
NG_032137.1:g.159892T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.1658T>C (COL4A2) MANE Select	NP_001837.2:p.Ile553Thr
ENST00000360467.7:c.1658T>C (COL4A2) MANE Select	ENSP00000353654.5:p.Ile553Thr
NM_001267044.1:c.72+848A>G (COL4A2-AS2)	NP_001253973.1:n.72+848A>G
NM_001846.2:c.1658T>C (COL4A2)	NP_001837.2:p.Ile553Thr
NM_001846.3:c.1658T>C (COL4A2)	NP_001837.2:p.Ile553Thr
NR_171022.1:n.265+848A>G (COL4A2-AS2)
ENST00000360467.5:c.1658T>C (COL4A2)	ENSP00000353654.5:p.Ile553Thr
ENST00000478681.1:n.154T>C (COL4A2)
XR_158875.3:n.619+848A>G (COL4A2-AS2)