Canonical Allele Identifier: CA2662320053

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098853-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098853A>T , CM000664.2:g.189098853A>T	GRCh38
NC_000002.11:g.189963579A>T , CM000664.1:g.189963579A>T	GRCh37
NC_000002.10:g.189671824A>T	NCBI36
NG_011799.1:g.86027T>A
NG_011799.2:g.86027T>A
NG_011799.3:g.131449T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-94T>A MANE Select	ENSP00000364000.3:n.370-94T>A
ENST00000649966.1:c.232-94T>A	ENSP00000496785.1:n.232-94T>A
ENST00000374866.7:c.370-94T>A	ENSP00000364000.3:n.370-94T>A
ENST00000618828.1:c.-261-94T>A	ENSP00000482184.1:n.-261-94T>A
NM_000393.3:c.370-94T>A	NP_000384.2:n.370-94T>A
XM_011510573.1:c.232-94T>A	XP_011508875.1:n.232-94T>A
NM_000393.4:c.370-94T>A	NP_000384.2:n.370-94T>A
XM_011510573.3:c.232-94T>A	XP_011508875.1:n.232-94T>A
NM_000393.5:c.370-94T>A MANE Select	NP_000384.2:n.370-94T>A