Canonical Allele Identifier: CA384540995

Gene: COL2A1

Linked Data

• COSMIC: COSM5448501 ; COSM5448502
• MyVariant Identifiers: chr12:g.48371894G>A (hg19) ; chr12:g.47978111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978111G>A , CM000674.2:g.47978111G>A	GRCh38
NC_000012.11:g.48371894G>A , CM000674.1:g.48371894G>A	GRCh37
NC_000012.10:g.46658161G>A	NCBI36
NG_008072.1:g.31392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2803C>T	ENSP00000338213.6:p.Pro935Ser
ENST00000380518.8:c.3010C>T MANE Select	ENSP00000369889.3:p.Pro1004Ser
ENST00000337299.6:c.2803C>T	ENSP00000338213.6:p.Pro935Ser
ENST00000380518.7:c.3010C>T	ENSP00000369889.3:p.Pro1004Ser
ENST00000493991.5:n.2096C>T
NM_001844.4:c.3010C>T	NP_001835.3:p.Pro1004Ser
NM_033150.2:c.2803C>T	NP_149162.2:p.Pro935Ser
XM_006719242.2:c.3154C>T	XP_006719305.2:p.Pro1052Ser
XM_011537928.1:c.3154C>T	XP_011536230.1:p.Pro1052Ser
XM_011537929.1:c.3154C>T	XP_011536231.1:p.Pro1052Ser
XM_011537930.1:c.3154C>T	XP_011536232.1:p.Pro1052Ser
XM_011537931.1:c.3154C>T	XP_011536233.1:p.Pro1052Ser
XM_011537932.1:c.3154C>T	XP_011536234.1:p.Pro1052Ser
XM_011537933.1:c.3154C>T	XP_011536235.1:p.Pro1052Ser
XM_011537934.1:c.3151C>T	XP_011536236.1:p.Pro1051Ser
XM_011537935.1:c.2098C>T	XP_011536237.1:p.Pro700Ser
XM_017018828.1:c.3154C>T	XP_016874317.1:p.Pro1052Ser
XM_017018829.1:c.3151C>T	XP_016874318.1:p.Pro1051Ser
XM_017018830.1:c.2944C>T	XP_016874319.1:p.Pro982Ser
XM_017018831.2:c.2464C>T	XP_016874320.1:p.Pro822Ser
NM_001844.5:c.3010C>T MANE Select	NP_001835.3:p.Pro1004Ser
NM_033150.3:c.2803C>T	NP_149162.2:p.Pro935Ser