Canonical Allele Identifier: CA384533581

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48367962C>A (hg19) ; chr12:g.47974179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974179C>A , CM000674.2:g.47974179C>A	GRCh38
NC_000012.11:g.48367962C>A , CM000674.1:g.48367962C>A	GRCh37
NC_000012.10:g.46654229C>A	NCBI36
NG_008072.1:g.35324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4020G>T	ENSP00000338213.6:p.Lys1340Asn
ENST00000380518.8:c.4227G>T MANE Select	ENSP00000369889.3:p.Lys1409Asn
ENST00000337299.6:c.4020G>T	ENSP00000338213.6:p.Lys1340Asn
ENST00000380518.7:c.4227G>T	ENSP00000369889.3:p.Lys1409Asn
ENST00000493991.5:n.3313G>T
NM_001844.4:c.4227G>T	NP_001835.3:p.Lys1409Asn
NM_033150.2:c.4020G>T	NP_149162.2:p.Lys1340Asn
XM_006719242.2:c.4371G>T	XP_006719305.2:p.Lys1457Asn
XM_011537928.1:c.4371G>T	XP_011536230.1:p.Lys1457Asn
XM_011537929.1:c.4371G>T	XP_011536231.1:p.Lys1457Asn
XM_011537930.1:c.4371G>T	XP_011536232.1:p.Lys1457Asn
XM_011537931.1:c.4371G>T	XP_011536233.1:p.Lys1457Asn
XM_011537932.1:c.4371G>T	XP_011536234.1:p.Lys1457Asn
XM_011537933.1:c.4371G>T	XP_011536235.1:p.Lys1457Asn
XM_011537934.1:c.4368G>T	XP_011536236.1:p.Lys1456Asn
XM_011537935.1:c.3315G>T	XP_011536237.1:p.Lys1105Asn
XM_017018828.1:c.4371G>T	XP_016874317.1:p.Lys1457Asn
XM_017018829.1:c.4368G>T	XP_016874318.1:p.Lys1456Asn
XM_017018830.1:c.4161G>T	XP_016874319.1:p.Lys1387Asn
XM_017018831.2:c.3681G>T	XP_016874320.1:p.Lys1227Asn
NM_001844.5:c.4227G>T MANE Select	NP_001835.3:p.Lys1409Asn
NM_033150.3:c.4020G>T	NP_149162.2:p.Lys1340Asn