Canonical Allele Identifier: CA2573149448

Gene: COL4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110308052C>T , CM000675.2:g.110308052C>T	GRCh38
NC_000013.10:g.110960399C>T , CM000675.1:g.110960399C>T	GRCh37
NC_000013.9:g.109758400C>T	NCBI36
NG_011544.2:g.4098G>A
NG_032137.1:g.5769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001846.4:c.45-17C>T MANE Select	NP_001837.2:n.45-17C>T
ENST00000360467.7:c.45-17C>T MANE Select	ENSP00000353654.5:n.45-17C>T
NM_001846.2:c.45-17C>T	NP_001837.2:n.45-17C>T
NM_001846.3:c.45-17C>T	NP_001837.2:n.45-17C>T
ENST00000360467.5:c.45-17C>T	ENSP00000353654.5:n.45-17C>T
ENST00000400163.6:c.45-17C>T	ENSP00000383027.2:n.45-17C>T
ENST00000400163.7:c.45-17C>T	ENSP00000383027.3:n.45-17C>T
ENST00000480771.5:n.351-17C>T
ENST00000649101.1:c.45-17C>T	ENSP00000497869.1:n.45-17C>T
ENST00000650540.1:c.45-17C>T	ENSP00000497878.1:n.45-17C>T