Canonical Allele Identifier: CA2753579419

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098577C>A , CM000664.2:g.189098577C>A	GRCh38
NC_000002.11:g.189963303C>A , CM000664.1:g.189963303C>A	GRCh37
NC_000002.10:g.189671548C>A	NCBI36
NG_011799.1:g.86303G>T
NG_011799.2:g.86303G>T
NG_011799.3:g.131725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+150G>T MANE Select	ENSP00000364000.3:n.402+150G>T
ENST00000649966.1:c.264+150G>T	ENSP00000496785.1:n.264+150G>T
ENST00000374866.7:c.402+150G>T	ENSP00000364000.3:n.402+150G>T
ENST00000618828.1:c.-229+150G>T	ENSP00000482184.1:n.-229+150G>T
NM_000393.3:c.402+150G>T	NP_000384.2:n.402+150G>T
XM_011510573.1:c.264+150G>T	XP_011508875.1:n.264+150G>T
NM_000393.4:c.402+150G>T	NP_000384.2:n.402+150G>T
XM_011510573.3:c.264+150G>T	XP_011508875.1:n.264+150G>T
NM_000393.5:c.402+150G>T MANE Select	NP_000384.2:n.402+150G>T