Canonical Allele Identifier: CA2118797615

Gene: COL4A2

Linked Data

• dbSNP Id: rs4773144

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110308365A>T , CM000675.2:g.110308365A>T	GRCh38
NC_000013.10:g.110960712A>T , CM000675.1:g.110960712A>T	GRCh37
NC_000013.9:g.109758713A>T	NCBI36
NG_011544.2:g.3785T>A
NG_032137.1:g.6082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360467.7:c.99+242A>T MANE Select	ENSP00000353654.5:n.99+242A>T
ENST00000400163.7:c.99+242A>T	ENSP00000383027.3:n.99+242A>T
ENST00000649101.1:c.99+242A>T	ENSP00000497869.1:n.99+242A>T
ENST00000650540.1:c.99+242A>T	ENSP00000497878.1:n.99+242A>T
ENST00000360467.5:c.99+242A>T	ENSP00000353654.5:n.99+242A>T
ENST00000400163.6:c.99+242A>T	ENSP00000383027.2:n.99+242A>T
ENST00000480771.5:n.405+242A>T
NM_001846.2:c.99+242A>T	NP_001837.2:n.99+242A>T
NM_001846.3:c.99+242A>T	NP_001837.2:n.99+242A>T
NM_001846.4:c.99+242A>T MANE Select	NP_001837.2:n.99+242A>T