Canonical Allele Identifier: CA349855208

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899836T>A (hg19) ; chr2:g.189035110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035110T>A , CM000664.2:g.189035110T>A	GRCh38
NC_000002.11:g.189899836T>A , CM000664.1:g.189899836T>A	GRCh37
NC_000002.10:g.189608081T>A	NCBI36
NG_011799.1:g.149770A>T
NG_011799.2:g.149770A>T
NG_011799.3:g.195192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4159A>T MANE Select	ENSP00000364000.3:p.Met1387Leu
ENST00000374866.7:c.4159A>T	ENSP00000364000.3:p.Met1387Leu
ENST00000618828.1:c.2998A>T	ENSP00000482184.1:p.Met1000Leu
NM_000393.3:c.4159A>T	NP_000384.2:p.Met1387Leu
XM_011510573.1:c.4021A>T	XP_011508875.1:p.Met1341Leu
NM_000393.4:c.4159A>T	NP_000384.2:p.Met1387Leu
XM_011510573.3:c.4021A>T	XP_011508875.1:p.Met1341Leu
NM_000393.5:c.4159A>T MANE Select	NP_000384.2:p.Met1387Leu