Canonical Allele Identifier: CA1315422596

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035108C= , CM000664.2:g.189035108C=	GRCh38
NC_000002.11:g.189899834C= , CM000664.1:g.189899834C=	GRCh37
NC_000002.10:g.189608079C=	NCBI36
NG_011799.1:g.149772G=
NG_011799.2:g.149772G=
NG_011799.3:g.195194G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4161G= MANE Select	ENSP00000364000.3:p.Met1387=
ENST00000374866.7:c.4161G=	ENSP00000364000.3:p.Met1387=
ENST00000618828.1:c.3000G=	ENSP00000482184.1:p.Met1000=
NM_000393.3:c.4161G=	NP_000384.2:p.Met1387=
XM_011510573.1:c.4023G=	XP_011508875.1:p.Met1341=
NM_000393.4:c.4161G=	NP_000384.2:p.Met1387=
XM_011510573.3:c.4023G=	XP_011508875.1:p.Met1341=
NM_000393.5:c.4161G= MANE Select	NP_000384.2:p.Met1387=