Canonical Allele Identifier: CA538451958

Gene: COL5A2

Linked Data

• dbSNP Id: rs1559079279
• gnomAD v2: 2-189915314-GGC-G
• gnomAD v4: 2-189050588-GGC-G
• MyVariant Identifiers: chr2:g.189915315_189915316del (hg19) ; chr2:g.189050589_189050590del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050589_189050590del , CM000664.2:g.189050589_189050590del	GRCh38
NC_000002.11:g.189915315_189915316del , CM000664.1:g.189915315_189915316del	GRCh37
NC_000002.10:g.189623560_189623561del	NCBI36
NG_011799.1:g.134290_134291del
NG_011799.2:g.134290_134291del
NG_011799.3:g.179712_179713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3018_3019del MANE Select	ENSP00000364000.3:p.Met1006IlefsTer22
ENST00000374866.7:c.3018_3019del	ENSP00000364000.3:p.Met1006IlefsTer22
ENST00000618828.1:c.1857_1858del	ENSP00000482184.1:p.Met619IlefsTer22
NM_000393.3:c.3018_3019del	NP_000384.2:p.Met1006IlefsTer22
XM_011510573.1:c.2880_2881del	XP_011508875.1:p.Met960IlefsTer22
NM_000393.4:c.3018_3019del	NP_000384.2:p.Met1006IlefsTer22
XM_011510573.3:c.2880_2881del	XP_011508875.1:p.Met960IlefsTer22
NM_000393.5:c.3018_3019del MANE Select	NP_000384.2:p.Met1006IlefsTer22