Canonical Allele Identifier: CA349862680

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910599G>C (hg19) ; chr2:g.189045873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045873G>C , CM000664.2:g.189045873G>C	GRCh38
NC_000002.11:g.189910599G>C , CM000664.1:g.189910599G>C	GRCh37
NC_000002.10:g.189618844G>C	NCBI36
NG_011799.1:g.139007C>G
NG_011799.2:g.139007C>G
NG_011799.3:g.184429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3236C>G MANE Select	ENSP00000364000.3:p.Pro1079Arg
ENST00000374866.7:c.3236C>G	ENSP00000364000.3:p.Pro1079Arg
ENST00000618828.1:c.2075C>G	ENSP00000482184.1:p.Pro692Arg
NM_000393.3:c.3236C>G	NP_000384.2:p.Pro1079Arg
XM_011510573.1:c.3098C>G	XP_011508875.1:p.Pro1033Arg
NM_000393.4:c.3236C>G	NP_000384.2:p.Pro1079Arg
XM_011510573.3:c.3098C>G	XP_011508875.1:p.Pro1033Arg
NM_000393.5:c.3236C>G MANE Select	NP_000384.2:p.Pro1079Arg