Canonical Allele Identifier: CA349866834

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915308A>T (hg19) ; chr2:g.189050582A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050582A>T , CM000664.2:g.189050582A>T	GRCh38
NC_000002.11:g.189915308A>T , CM000664.1:g.189915308A>T	GRCh37
NC_000002.10:g.189623553A>T	NCBI36
NG_011799.1:g.134298T>A
NG_011799.2:g.134298T>A
NG_011799.3:g.179720T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3026T>A MANE Select	ENSP00000364000.3:p.Leu1009Gln
ENST00000374866.7:c.3026T>A	ENSP00000364000.3:p.Leu1009Gln
ENST00000618828.1:c.1865T>A	ENSP00000482184.1:p.Leu622Gln
NM_000393.3:c.3026T>A	NP_000384.2:p.Leu1009Gln
XM_011510573.1:c.2888T>A	XP_011508875.1:p.Leu963Gln
NM_000393.4:c.3026T>A	NP_000384.2:p.Leu1009Gln
XM_011510573.3:c.2888T>A	XP_011508875.1:p.Leu963Gln
NM_000393.5:c.3026T>A MANE Select	NP_000384.2:p.Leu1009Gln