Canonical Allele Identifier: CA430321958

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050572-T-C
• MyVariant Identifiers: chr2:g.189915298T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050572T>C , CM000664.2:g.189050572T>C	GRCh38
NC_000002.11:g.189915298T>C , CM000664.1:g.189915298T>C	GRCh37
NC_000002.10:g.189623543T>C	NCBI36
NG_011799.1:g.134308A>G
NG_011799.2:g.134308A>G
NG_011799.3:g.179730A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3036A>G MANE Select	ENSP00000364000.3:p.Pro1012=
ENST00000374866.7:c.3036A>G	ENSP00000364000.3:p.Pro1012=
ENST00000618828.1:c.1875A>G	ENSP00000482184.1:p.Pro625=
NM_000393.3:c.3036A>G	NP_000384.2:p.Pro1012=
XM_011510573.1:c.2898A>G	XP_011508875.1:p.Pro966=
NM_000393.4:c.3036A>G	NP_000384.2:p.Pro1012=
XM_011510573.3:c.2898A>G	XP_011508875.1:p.Pro966=
NM_000393.5:c.3036A>G MANE Select	NP_000384.2:p.Pro1012=