Canonical Allele Identifier: CA7048764

Gene: COL4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110308116T>C , CM000675.2:g.110308116T>C	GRCh38
NC_000013.10:g.110960463T>C , CM000675.1:g.110960463T>C	GRCh37
NC_000013.9:g.109758464T>C	NCBI36
NG_011544.2:g.4034A>G
NG_032137.1:g.5833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360467.7:c.92T>C MANE Select	ENSP00000353654.5:p.Val31Ala
ENST00000400163.7:c.92T>C	ENSP00000383027.3:p.Val31Ala
ENST00000649101.1:c.92T>C	ENSP00000497869.1:p.Val31Ala
ENST00000650540.1:c.92T>C	ENSP00000497878.1:p.Val31Ala
ENST00000360467.5:c.92T>C	ENSP00000353654.5:p.Val31Ala
ENST00000400163.6:c.92T>C	ENSP00000383027.2:p.Val31Ala
ENST00000480771.5:n.398T>C
NM_001846.2:c.92T>C	NP_001837.2:p.Val31Ala
NM_001846.3:c.92T>C	NP_001837.2:p.Val31Ala
NM_001846.4:c.92T>C MANE Select	NP_001837.2:p.Val31Ala