Canonical Allele Identifier: CA2021835

Gene: COL5A2

Linked Data

• dbSNP Id: rs765636716
• ExAC: 2:189899846 G / A
• gnomAD v2: 2-189899846-G-A
• gnomAD v3: 2-189035120-G-A
• gnomAD v4: 2-189035120-G-A
• MyVariant Identifiers: chr2:g.189899846G>A (hg19) ; chr2:g.189035120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035120G>A , CM000664.2:g.189035120G>A	GRCh38
NC_000002.11:g.189899846G>A , CM000664.1:g.189899846G>A	GRCh37
NC_000002.10:g.189608091G>A	NCBI36
NG_011799.1:g.149760C>T
NG_011799.2:g.149760C>T
NG_011799.3:g.195182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4149C>T MANE Select	ENSP00000364000.3:p.Ala1383=
ENST00000374866.7:c.4149C>T	ENSP00000364000.3:p.Ala1383=
ENST00000618828.1:c.2988C>T	ENSP00000482184.1:p.Ala996=
NM_000393.3:c.4149C>T	NP_000384.2:p.Ala1383=
XM_011510573.1:c.4011C>T	XP_011508875.1:p.Ala1337=
NM_000393.4:c.4149C>T	NP_000384.2:p.Ala1383=
XM_011510573.3:c.4011C>T	XP_011508875.1:p.Ala1337=
NM_000393.5:c.4149C>T MANE Select	NP_000384.2:p.Ala1383=