Canonical Allele Identifier: CA2021850

Gene: COL5A2

Linked Data

• dbSNP Id: rs771632128
• ExAC: 2:189899914 G / C
• gnomAD v2: 2-189899914-G-C
• MyVariant Identifiers: chr2:g.189899914G>C (hg19) ; chr2:g.189035188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035188G>C , CM000664.2:g.189035188G>C	GRCh38
NC_000002.11:g.189899914G>C , CM000664.1:g.189899914G>C	GRCh37
NC_000002.10:g.189608159G>C	NCBI36
NG_011799.1:g.149692C>G
NG_011799.2:g.149692C>G
NG_011799.3:g.195114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-33C>G MANE Select	ENSP00000364000.3:n.4114-33C>G
ENST00000374866.7:c.4114-33C>G	ENSP00000364000.3:n.4114-33C>G
ENST00000618828.1:c.2953-33C>G	ENSP00000482184.1:n.2953-33C>G
NM_000393.3:c.4114-33C>G	NP_000384.2:n.4114-33C>G
XM_011510573.1:c.3976-33C>G	XP_011508875.1:n.3976-33C>G
NM_000393.4:c.4114-33C>G	NP_000384.2:n.4114-33C>G
XM_011510573.3:c.3976-33C>G	XP_011508875.1:n.3976-33C>G
NM_000393.5:c.4114-33C>G MANE Select	NP_000384.2:n.4114-33C>G