Canonical Allele Identifier: CA16621650
Gene: COL4A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425033
ClinVar RCV Id: RCV000487860
dbSNP Id: rs1064797180

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110439788G>A , CM000675.2:g.110439788G>A GRCh38
NC_000013.10:g.111092135G>A , CM000675.1:g.111092135G>A GRCh37
NC_000013.9:g.109890136G>A NCBI36
NG_032137.1:g.137505G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360467.7:c.913-1G>A MANE Select ENSP00000353654.5:n.913-1G>A
ENST00000617564.2:c.170-1G>A
ENST00000650540.1:c.913-1G>A ENSP00000497878.1:n.913-1G>A
ENST00000360467.5:c.913-1G>A ENSP00000353654.5:n.913-1G>A
NM_001846.2:c.913-1G>A NP_001837.2:n.913-1G>A
NM_001846.3:c.913-1G>A NP_001837.2:n.913-1G>A
NM_001846.4:c.913-1G>A MANE Select NP_001837.2:n.913-1G>A