Canonical Allele Identifier: CA349862700

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910603G>T (hg19) ; chr2:g.189045877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045877G>T , CM000664.2:g.189045877G>T	GRCh38
NC_000002.11:g.189910603G>T , CM000664.1:g.189910603G>T	GRCh37
NC_000002.10:g.189618848G>T	NCBI36
NG_011799.1:g.139003C>A
NG_011799.2:g.139003C>A
NG_011799.3:g.184425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3232C>A MANE Select	ENSP00000364000.3:p.Leu1078Met
ENST00000374866.7:c.3232C>A	ENSP00000364000.3:p.Leu1078Met
ENST00000618828.1:c.2071C>A	ENSP00000482184.1:p.Leu691Met
NM_000393.3:c.3232C>A	NP_000384.2:p.Leu1078Met
XM_011510573.1:c.3094C>A	XP_011508875.1:p.Leu1032Met
NM_000393.4:c.3232C>A	NP_000384.2:p.Leu1078Met
XM_011510573.3:c.3094C>A	XP_011508875.1:p.Leu1032Met
NM_000393.5:c.3232C>A MANE Select	NP_000384.2:p.Leu1078Met