Canonical Allele Identifier: CA2021938

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 459745
• ClinVar RCV Id: RCV000541739 ; RCV001093164 ; RCV002456081 ; RCV002231331
• dbSNP Id: rs770554435
• ExAC: 2:189904265 G / A
• gnomAD v2: 2-189904265-G-A
• gnomAD v3: 2-189039539-G-A
• gnomAD v4: 2-189039539-G-A
• MyVariant Identifiers: chr2:g.189904265G>A (hg19) ; chr2:g.189039539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189039539G>A , CM000664.2:g.189039539G>A	GRCh38
NC_000002.11:g.189904265G>A , CM000664.1:g.189904265G>A	GRCh37
NC_000002.10:g.189612510G>A	NCBI36
NG_011799.1:g.145341C>T
NG_011799.2:g.145341C>T
NG_011799.3:g.190763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3658C>T MANE Select	ENSP00000364000.3:p.Pro1220Ser
ENST00000374866.7:c.3658C>T	ENSP00000364000.3:p.Pro1220Ser
ENST00000618828.1:c.2497C>T	ENSP00000482184.1:p.Pro833Ser
NM_000393.3:c.3658C>T	NP_000384.2:p.Pro1220Ser
XM_011510573.1:c.3520C>T	XP_011508875.1:p.Pro1174Ser
NM_000393.4:c.3658C>T	NP_000384.2:p.Pro1220Ser
XM_011510573.3:c.3520C>T	XP_011508875.1:p.Pro1174Ser
NM_000393.5:c.3658C>T MANE Select	NP_000384.2:p.Pro1220Ser