Canonical Allele Identifier: CA349862673

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189045873-G-T
• MyVariant Identifiers: chr2:g.189910599G>T (hg19) ; chr2:g.189045873G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3236C>A MANE Select	ENSP00000364000.3:p.Pro1079Gln
ENST00000374866.7:c.3236C>A	ENSP00000364000.3:p.Pro1079Gln
ENST00000618828.1:c.2075C>A	ENSP00000482184.1:p.Pro692Gln
NM_000393.3:c.3236C>A	NP_000384.2:p.Pro1079Gln
XM_011510573.1:c.3098C>A	XP_011508875.1:p.Pro1033Gln
NM_000393.4:c.3236C>A	NP_000384.2:p.Pro1079Gln
XM_011510573.3:c.3098C>A	XP_011508875.1:p.Pro1033Gln
NM_000393.5:c.3236C>A MANE Select	NP_000384.2:p.Pro1079Gln