Canonical Allele Identifier: CA6534828

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1810633
• ClinVar RCV Id: RCV002510120 ; RCV002574727
• dbSNP Id: rs756125516
• ExAC: 12:48371124 C / A
• gnomAD v2: 12-48371124-C-A
• gnomAD v4: 12-47977341-C-A
• MyVariant Identifiers: chr12:g.48371124C>A (hg19) ; chr12:g.47977341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977341C>A , CM000674.2:g.47977341C>A	GRCh38
NC_000012.11:g.48371124C>A , CM000674.1:g.48371124C>A	GRCh37
NC_000012.10:g.46657391C>A	NCBI36
NG_008072.1:g.32162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3045G>T	ENSP00000338213.6:p.Lys1015Asn
ENST00000380518.8:c.3252G>T MANE Select	ENSP00000369889.3:p.Lys1084Asn
ENST00000337299.6:c.3045G>T	ENSP00000338213.6:p.Lys1015Asn
ENST00000380518.7:c.3252G>T	ENSP00000369889.3:p.Lys1084Asn
ENST00000493991.5:n.2338G>T
ENST00000546974.1:n.105G>T
NM_001844.4:c.3252G>T	NP_001835.3:p.Lys1084Asn
NM_033150.2:c.3045G>T	NP_149162.2:p.Lys1015Asn
XM_006719242.2:c.3396G>T	XP_006719305.2:p.Lys1132Asn
XM_011537928.1:c.3396G>T	XP_011536230.1:p.Lys1132Asn
XM_011537929.1:c.3396G>T	XP_011536231.1:p.Lys1132Asn
XM_011537930.1:c.3396G>T	XP_011536232.1:p.Lys1132Asn
XM_011537931.1:c.3396G>T	XP_011536233.1:p.Lys1132Asn
XM_011537932.1:c.3396G>T	XP_011536234.1:p.Lys1132Asn
XM_011537933.1:c.3396G>T	XP_011536235.1:p.Lys1132Asn
XM_011537934.1:c.3393G>T	XP_011536236.1:p.Lys1131Asn
XM_011537935.1:c.2340G>T	XP_011536237.1:p.Lys780Asn
XM_017018828.1:c.3396G>T	XP_016874317.1:p.Lys1132Asn
XM_017018829.1:c.3393G>T	XP_016874318.1:p.Lys1131Asn
XM_017018830.1:c.3186G>T	XP_016874319.1:p.Lys1062Asn
XM_017018831.2:c.2706G>T	XP_016874320.1:p.Lys902Asn
NM_001844.5:c.3252G>T MANE Select	NP_001835.3:p.Lys1084Asn
NM_033150.3:c.3045G>T	NP_149162.2:p.Lys1015Asn