Canonical Allele Identifier: CA62578020

Gene: COL5A2

Linked Data

• dbSNP Id: rs914336313
• MyVariant Identifiers: chr2:g.189963349T>G (hg19) ; chr2:g.189098623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098623T>G , CM000664.2:g.189098623T>G	GRCh38
NC_000002.11:g.189963349T>G , CM000664.1:g.189963349T>G	GRCh37
NC_000002.10:g.189671594T>G	NCBI36
NG_011799.1:g.86257A>C
NG_011799.2:g.86257A>C
NG_011799.3:g.131679A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+104A>C MANE Select	ENSP00000364000.3:n.402+104A>C
ENST00000649966.1:c.264+104A>C	ENSP00000496785.1:n.264+104A>C
ENST00000374866.7:c.402+104A>C	ENSP00000364000.3:n.402+104A>C
ENST00000618828.1:c.-229+104A>C	ENSP00000482184.1:n.-229+104A>C
NM_000393.3:c.402+104A>C	NP_000384.2:n.402+104A>C
XM_011510573.1:c.264+104A>C	XP_011508875.1:n.264+104A>C
NM_000393.4:c.402+104A>C	NP_000384.2:n.402+104A>C
XM_011510573.3:c.264+104A>C	XP_011508875.1:n.264+104A>C
NM_000393.5:c.402+104A>C MANE Select	NP_000384.2:n.402+104A>C