Canonical Allele Identifier: CA384533536

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48367940T>A (hg19) ; chr12:g.47974157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974157T>A , CM000674.2:g.47974157T>A	GRCh38
NC_000012.11:g.48367940T>A , CM000674.1:g.48367940T>A	GRCh37
NC_000012.10:g.46654207T>A	NCBI36
NG_008072.1:g.35346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4042A>T	ENSP00000338213.6:p.Asn1348Tyr
ENST00000380518.8:c.4249A>T MANE Select	ENSP00000369889.3:p.Asn1417Tyr
ENST00000337299.6:c.4042A>T	ENSP00000338213.6:p.Asn1348Tyr
ENST00000380518.7:c.4249A>T	ENSP00000369889.3:p.Asn1417Tyr
ENST00000493991.5:n.3335A>T
NM_001844.4:c.4249A>T	NP_001835.3:p.Asn1417Tyr
NM_033150.2:c.4042A>T	NP_149162.2:p.Asn1348Tyr
XM_006719242.2:c.4393A>T	XP_006719305.2:p.Asn1465Tyr
XM_011537928.1:c.4393A>T	XP_011536230.1:p.Asn1465Tyr
XM_011537929.1:c.4393A>T	XP_011536231.1:p.Asn1465Tyr
XM_011537930.1:c.4393A>T	XP_011536232.1:p.Asn1465Tyr
XM_011537931.1:c.4393A>T	XP_011536233.1:p.Asn1465Tyr
XM_011537932.1:c.4393A>T	XP_011536234.1:p.Asn1465Tyr
XM_011537933.1:c.4393A>T	XP_011536235.1:p.Asn1465Tyr
XM_011537934.1:c.4390A>T	XP_011536236.1:p.Asn1464Tyr
XM_011537935.1:c.3337A>T	XP_011536237.1:p.Asn1113Tyr
XM_017018828.1:c.4393A>T	XP_016874317.1:p.Asn1465Tyr
XM_017018829.1:c.4390A>T	XP_016874318.1:p.Asn1464Tyr
XM_017018830.1:c.4183A>T	XP_016874319.1:p.Asn1395Tyr
XM_017018831.2:c.3703A>T	XP_016874320.1:p.Asn1235Tyr
NM_001844.5:c.4249A>T MANE Select	NP_001835.3:p.Asn1417Tyr
NM_033150.3:c.4042A>T	NP_149162.2:p.Asn1348Tyr