Canonical Allele Identifier: CA2662319964

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098685-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098685A>G , CM000664.2:g.189098685A>G	GRCh38
NC_000002.11:g.189963411A>G , CM000664.1:g.189963411A>G	GRCh37
NC_000002.10:g.189671656A>G	NCBI36
NG_011799.1:g.86195T>C
NG_011799.2:g.86195T>C
NG_011799.3:g.131617T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.402+42T>C MANE Select	ENSP00000364000.3:n.402+42T>C
ENST00000649966.1:c.264+42T>C	ENSP00000496785.1:n.264+42T>C
ENST00000374866.7:c.402+42T>C	ENSP00000364000.3:n.402+42T>C
ENST00000618828.1:c.-229+42T>C	ENSP00000482184.1:n.-229+42T>C
NM_000393.3:c.402+42T>C	NP_000384.2:n.402+42T>C
XM_011510573.1:c.264+42T>C	XP_011508875.1:n.264+42T>C
NM_000393.4:c.402+42T>C	NP_000384.2:n.402+42T>C
XM_011510573.3:c.264+42T>C	XP_011508875.1:n.264+42T>C
NM_000393.5:c.402+42T>C MANE Select	NP_000384.2:n.402+42T>C