Canonical Allele Identifier: CA2662319885

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098575-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098575G>T , CM000664.2:g.189098575G>T	GRCh38
NC_000002.11:g.189963301G>T , CM000664.1:g.189963301G>T	GRCh37
NC_000002.10:g.189671546G>T	NCBI36
NG_011799.1:g.86305C>A
NG_011799.2:g.86305C>A
NG_011799.3:g.131727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+152C>A MANE Select	ENSP00000364000.3:n.402+152C>A
ENST00000649966.1:c.264+152C>A	ENSP00000496785.1:n.264+152C>A
ENST00000374866.7:c.402+152C>A	ENSP00000364000.3:n.402+152C>A
ENST00000618828.1:c.-229+152C>A	ENSP00000482184.1:n.-229+152C>A
NM_000393.3:c.402+152C>A	NP_000384.2:n.402+152C>A
XM_011510573.1:c.264+152C>A	XP_011508875.1:n.264+152C>A
NM_000393.4:c.402+152C>A	NP_000384.2:n.402+152C>A
XM_011510573.3:c.264+152C>A	XP_011508875.1:n.264+152C>A
NM_000393.5:c.402+152C>A MANE Select	NP_000384.2:n.402+152C>A