Canonical Allele Identifier: CA62578029

Gene: COL5A2

Linked Data

• dbSNP Id: rs567826778
• gnomAD v3: 2-189098636-C-A
• gnomAD v4: 2-189098636-C-A
• MyVariant Identifiers: chr2:g.189963362C>A (hg19) ; chr2:g.189098636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098636C>A , CM000664.2:g.189098636C>A	GRCh38
NC_000002.11:g.189963362C>A , CM000664.1:g.189963362C>A	GRCh37
NC_000002.10:g.189671607C>A	NCBI36
NG_011799.1:g.86244G>T
NG_011799.2:g.86244G>T
NG_011799.3:g.131666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+91G>T MANE Select	ENSP00000364000.3:n.402+91G>T
ENST00000649966.1:c.264+91G>T	ENSP00000496785.1:n.264+91G>T
ENST00000374866.7:c.402+91G>T	ENSP00000364000.3:n.402+91G>T
ENST00000618828.1:c.-229+91G>T	ENSP00000482184.1:n.-229+91G>T
NM_000393.3:c.402+91G>T	NP_000384.2:n.402+91G>T
XM_011510573.1:c.264+91G>T	XP_011508875.1:n.264+91G>T
NM_000393.4:c.402+91G>T	NP_000384.2:n.402+91G>T
XM_011510573.3:c.264+91G>T	XP_011508875.1:n.264+91G>T
NM_000393.5:c.402+91G>T MANE Select	NP_000384.2:n.402+91G>T