Canonical Allele Identifier: CA2118797614
Community Standard Title: NM_001846.4(COL4A2):c.99+242A=
Gene: COL4A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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