Canonical Allele Identifier: CA349866785
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050573G>A , CM000664.2:g.189050573G>A GRCh38
NC_000002.11:g.189915299G>A , CM000664.1:g.189915299G>A GRCh37
NC_000002.10:g.189623544G>A NCBI36
NG_011799.1:g.134307C>T
NG_011799.2:g.134307C>T
NG_011799.3:g.179729C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3035C>T MANE Select ENSP00000364000.3:p.Pro1012Leu
ENST00000374866.7:c.3035C>T ENSP00000364000.3:p.Pro1012Leu
ENST00000618828.1:c.1874C>T ENSP00000482184.1:p.Pro625Leu
NM_000393.3:c.3035C>T NP_000384.2:p.Pro1012Leu
XM_011510573.1:c.2897C>T XP_011508875.1:p.Pro966Leu
NM_000393.4:c.3035C>T NP_000384.2:p.Pro1012Leu
XM_011510573.3:c.2897C>T XP_011508875.1:p.Pro966Leu
NM_000393.5:c.3035C>T MANE Select NP_000384.2:p.Pro1012Leu