Canonical Allele Identifier: CA388733132

Gene: COL4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110308106G>A , CM000675.2:g.110308106G>A	GRCh38
NC_000013.10:g.110960453G>A , CM000675.1:g.110960453G>A	GRCh37
NC_000013.9:g.109758454G>A	NCBI36
NG_011544.2:g.4044C>T
NG_032137.1:g.5823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360467.7:c.82G>A MANE Select	ENSP00000353654.5:p.Ala28Thr
ENST00000400163.7:c.82G>A	ENSP00000383027.3:p.Ala28Thr
ENST00000649101.1:c.82G>A	ENSP00000497869.1:p.Ala28Thr
ENST00000650540.1:c.82G>A	ENSP00000497878.1:p.Ala28Thr
ENST00000360467.5:c.82G>A	ENSP00000353654.5:p.Ala28Thr
ENST00000400163.6:c.82G>A	ENSP00000383027.2:p.Ala28Thr
ENST00000480771.5:n.388G>A
NM_001846.2:c.82G>A	NP_001837.2:p.Ala28Thr
NM_001846.3:c.82G>A	NP_001837.2:p.Ala28Thr
NM_001846.4:c.82G>A MANE Select	NP_001837.2:p.Ala28Thr