Canonical Allele Identifier: CA2022458

Gene: COL5A2

Linked Data

• dbSNP Id: rs576347816
• ExAC: 2:189923668 G / T
• gnomAD v2: 2-189923668-G-T
• gnomAD v3: 2-189058942-G-T
• gnomAD v4: 2-189058942-G-T
• MyVariant Identifiers: chr2:g.189923668G>T (hg19) ; chr2:g.189058942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058942G>T , CM000664.2:g.189058942G>T	GRCh38
NC_000002.11:g.189923668G>T , CM000664.1:g.189923668G>T	GRCh37
NC_000002.10:g.189631913G>T	NCBI36
NG_011799.1:g.125938C>A
NG_011799.2:g.125938C>A
NG_011799.3:g.171360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-49C>A MANE Select	ENSP00000364000.3:n.2086-49C>A
ENST00000374866.7:c.2086-49C>A	ENSP00000364000.3:n.2086-49C>A
ENST00000470524.2:n.192-49C>A
ENST00000618828.1:c.925-49C>A	ENSP00000482184.1:n.925-49C>A
NM_000393.3:c.2086-49C>A	NP_000384.2:n.2086-49C>A
XM_011510573.1:c.1948-49C>A	XP_011508875.1:n.1948-49C>A
NM_000393.4:c.2086-49C>A	NP_000384.2:n.2086-49C>A
XM_011510573.3:c.1948-49C>A	XP_011508875.1:n.1948-49C>A
NM_000393.5:c.2086-49C>A MANE Select	NP_000384.2:n.2086-49C>A