Canonical Allele Identifier: CA349867018

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050616-G-T
• MyVariant Identifiers: chr2:g.189915342G>T (hg19) ; chr2:g.189050616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050616G>T , CM000664.2:g.189050616G>T	GRCh38
NC_000002.11:g.189915342G>T , CM000664.1:g.189915342G>T	GRCh37
NC_000002.10:g.189623587G>T	NCBI36
NG_011799.1:g.134264C>A
NG_011799.2:g.134264C>A
NG_011799.3:g.179686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2992C>A MANE Select	ENSP00000364000.3:p.Pro998Thr
ENST00000374866.7:c.2992C>A	ENSP00000364000.3:p.Pro998Thr
ENST00000618828.1:c.1831C>A	ENSP00000482184.1:p.Pro611Thr
NM_000393.3:c.2992C>A	NP_000384.2:p.Pro998Thr
XM_011510573.1:c.2854C>A	XP_011508875.1:p.Pro952Thr
NM_000393.4:c.2992C>A	NP_000384.2:p.Pro998Thr
XM_011510573.3:c.2854C>A	XP_011508875.1:p.Pro952Thr
NM_000393.5:c.2992C>A MANE Select	NP_000384.2:p.Pro998Thr