Canonical Allele Identifier: CA2499221947

Gene: COL4A2 COL4A2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110503859_110503876del , CM000675.2:g.110503859_110503876del	GRCh38
NC_000013.10:g.111156206_111156223del , CM000675.1:g.111156206_111156223del	GRCh37
NC_000013.9:g.109954207_109954224del	NCBI36
NG_032137.1:g.201576_201593del

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.4151_4168del (COL4A2) MANE Select	NP_001837.2:p.Thr1384_Gly1389del
ENST00000360467.7:c.4151_4168del (COL4A2) MANE Select	ENSP00000353654.5:p.Thr1384_Gly1389del
NM_001846.2:c.4151_4168del (COL4A2)	NP_001837.2:p.Thr1384_Gly1389del
NM_001846.3:c.4151_4168del (COL4A2)	NP_001837.2:p.Thr1384_Gly1389del
NR_046583.1:n.187-938_187-921del (COL4A2-AS1)
ENST00000360467.5:c.4151_4168del (COL4A2)	ENSP00000353654.5:p.Thr1384_Gly1389del
ENST00000649396.1:n.109_126del (COL4A2)
ENST00000650225.1:n.1806_1823del (COL4A2)
ENST00000650322.1:n.83_100del (COL4A2)