Canonical Allele Identifier: CA384540954

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371886C>G (hg19) ; chr12:g.47978103C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978103C>G , CM000674.2:g.47978103C>G	GRCh38
NC_000012.11:g.48371886C>G , CM000674.1:g.48371886C>G	GRCh37
NC_000012.10:g.46658153C>G	NCBI36
NG_008072.1:g.31400G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2811G>C	ENSP00000338213.6:p.Lys937Asn
ENST00000380518.8:c.3018G>C MANE Select	ENSP00000369889.3:p.Lys1006Asn
ENST00000337299.6:c.2811G>C	ENSP00000338213.6:p.Lys937Asn
ENST00000380518.7:c.3018G>C	ENSP00000369889.3:p.Lys1006Asn
ENST00000493991.5:n.2104G>C
NM_001844.4:c.3018G>C	NP_001835.3:p.Lys1006Asn
NM_033150.2:c.2811G>C	NP_149162.2:p.Lys937Asn
XM_006719242.2:c.3162G>C	XP_006719305.2:p.Lys1054Asn
XM_011537928.1:c.3162G>C	XP_011536230.1:p.Lys1054Asn
XM_011537929.1:c.3162G>C	XP_011536231.1:p.Lys1054Asn
XM_011537930.1:c.3162G>C	XP_011536232.1:p.Lys1054Asn
XM_011537931.1:c.3162G>C	XP_011536233.1:p.Lys1054Asn
XM_011537932.1:c.3162G>C	XP_011536234.1:p.Lys1054Asn
XM_011537933.1:c.3162G>C	XP_011536235.1:p.Lys1054Asn
XM_011537934.1:c.3159G>C	XP_011536236.1:p.Lys1053Asn
XM_011537935.1:c.2106G>C	XP_011536237.1:p.Lys702Asn
XM_017018828.1:c.3162G>C	XP_016874317.1:p.Lys1054Asn
XM_017018829.1:c.3159G>C	XP_016874318.1:p.Lys1053Asn
XM_017018830.1:c.2952G>C	XP_016874319.1:p.Lys984Asn
XM_017018831.2:c.2472G>C	XP_016874320.1:p.Lys824Asn
NM_001844.5:c.3018G>C MANE Select	NP_001835.3:p.Lys1006Asn
NM_033150.3:c.2811G>C	NP_149162.2:p.Lys937Asn