Canonical Allele Identifier: CA7049635

Gene: COL4A2 COL4A2-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110458967A>G , CM000675.2:g.110458967A>G	GRCh38
NC_000013.10:g.111111314A>G , CM000675.1:g.111111314A>G	GRCh37
NC_000013.9:g.109909315A>G	NCBI36
NG_032137.1:g.156684A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.1596+33A>G (COL4A2) MANE Select	NP_001837.2:n.1596+33A>G
ENST00000360467.7:c.1596+33A>G (COL4A2) MANE Select	ENSP00000353654.5:n.1596+33A>G
NM_001267044.1:c.73-681T>C (COL4A2-AS2)	NP_001253973.1:n.73-681T>C
NM_001846.2:c.1596+33A>G (COL4A2)	NP_001837.2:n.1596+33A>G
NM_001846.3:c.1596+33A>G (COL4A2)	NP_001837.2:n.1596+33A>G
NR_171022.1:n.266-681T>C (COL4A2-AS2)
ENST00000360467.5:c.1596+33A>G (COL4A2)	ENSP00000353654.5:n.1596+33A>G
ENST00000617564.1:c.80A>G (COL4A2)
ENST00000617564.2:c.886A>G (COL4A2)
XR_158875.3:n.620-681T>C (COL4A2-AS2)