Canonical Allele Identifier: CA6534679

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1199888
• ClinVar RCV Id: RCV001564722
• dbSNP Id: rs375710692
• ExAC: 12:48369347 G / A
• gnomAD v2: 12-48369347-G-A
• gnomAD v3: 12-47975564-G-A
• gnomAD v4: 12-47975564-G-A
• MyVariant Identifiers: chr12:g.48369347G>A (hg19) ; chr12:g.47975564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975564G>A , CM000674.2:g.47975564G>A	GRCh38
NC_000012.11:g.48369347G>A , CM000674.1:g.48369347G>A	GRCh37
NC_000012.10:g.46655614G>A	NCBI36
NG_008072.1:g.33939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3432C>T	ENSP00000338213.6:p.Pro1144=
ENST00000380518.8:c.3639C>T MANE Select	ENSP00000369889.3:p.Pro1213=
ENST00000337299.6:c.3432C>T	ENSP00000338213.6:p.Pro1144=
ENST00000380518.7:c.3639C>T	ENSP00000369889.3:p.Pro1213=
ENST00000493991.5:n.2725C>T
ENST00000546974.1:n.492C>T
NM_001844.4:c.3639C>T	NP_001835.3:p.Pro1213=
NM_033150.2:c.3432C>T	NP_149162.2:p.Pro1144=
XM_006719242.2:c.3783C>T	XP_006719305.2:p.Pro1261=
XM_011537928.1:c.3783C>T	XP_011536230.1:p.Pro1261=
XM_011537929.1:c.3783C>T	XP_011536231.1:p.Pro1261=
XM_011537930.1:c.3783C>T	XP_011536232.1:p.Pro1261=
XM_011537931.1:c.3783C>T	XP_011536233.1:p.Pro1261=
XM_011537932.1:c.3783C>T	XP_011536234.1:p.Pro1261=
XM_011537933.1:c.3783C>T	XP_011536235.1:p.Pro1261=
XM_011537934.1:c.3780C>T	XP_011536236.1:p.Pro1260=
XM_011537935.1:c.2727C>T	XP_011536237.1:p.Pro909=
XM_017018828.1:c.3783C>T	XP_016874317.1:p.Pro1261=
XM_017018829.1:c.3780C>T	XP_016874318.1:p.Pro1260=
XM_017018830.1:c.3573C>T	XP_016874319.1:p.Pro1191=
XM_017018831.2:c.3093C>T	XP_016874320.1:p.Pro1031=
NM_001844.5:c.3639C>T MANE Select	NP_001835.3:p.Pro1213=
NM_033150.3:c.3432C>T	NP_149162.2:p.Pro1144=