Canonical Allele Identifier: CA349855231

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899844A>T (hg19) ; chr2:g.189035118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035118A>T , CM000664.2:g.189035118A>T	GRCh38
NC_000002.11:g.189899844A>T , CM000664.1:g.189899844A>T	GRCh37
NC_000002.10:g.189608089A>T	NCBI36
NG_011799.1:g.149762T>A
NG_011799.2:g.149762T>A
NG_011799.3:g.195184T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4151T>A MANE Select	ENSP00000364000.3:p.Ile1384Asn
ENST00000374866.7:c.4151T>A	ENSP00000364000.3:p.Ile1384Asn
ENST00000618828.1:c.2990T>A	ENSP00000482184.1:p.Ile997Asn
NM_000393.3:c.4151T>A	NP_000384.2:p.Ile1384Asn
XM_011510573.1:c.4013T>A	XP_011508875.1:p.Ile1338Asn
NM_000393.4:c.4151T>A	NP_000384.2:p.Ile1384Asn
XM_011510573.3:c.4013T>A	XP_011508875.1:p.Ile1338Asn
NM_000393.5:c.4151T>A MANE Select	NP_000384.2:p.Ile1384Asn