Canonical Allele Identifier: CA1315422621

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685418993
• gnomAD v4: 2-189035164-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035164A>G , CM000664.2:g.189035164A>G	GRCh38
NC_000002.11:g.189899890A>G , CM000664.1:g.189899890A>G	GRCh37
NC_000002.10:g.189608135A>G	NCBI36
NG_011799.1:g.149716T>C
NG_011799.2:g.149716T>C
NG_011799.3:g.195138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-9T>C MANE Select	ENSP00000364000.3:n.4114-9T>C
ENST00000374866.7:c.4114-9T>C	ENSP00000364000.3:n.4114-9T>C
ENST00000618828.1:c.2953-9T>C	ENSP00000482184.1:n.2953-9T>C
NM_000393.3:c.4114-9T>C	NP_000384.2:n.4114-9T>C
XM_011510573.1:c.3976-9T>C	XP_011508875.1:n.3976-9T>C
NM_000393.4:c.4114-9T>C	NP_000384.2:n.4114-9T>C
XM_011510573.3:c.3976-9T>C	XP_011508875.1:n.3976-9T>C
NM_000393.5:c.4114-9T>C MANE Select	NP_000384.2:n.4114-9T>C