Canonical Allele Identifier: CA6535116

Gene: COL2A1

Linked Data

• dbSNP Id: rs772898695
• ExAC: 12:48375561 T / C
• gnomAD v4: 12-47981778-T-C
• MyVariant Identifiers: chr12:g.48375561T>C (hg19) ; chr12:g.47981778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981778T>C , CM000674.2:g.47981778T>C	GRCh38
NC_000012.11:g.48375561T>C , CM000674.1:g.48375561T>C	GRCh37
NC_000012.10:g.46661828T>C	NCBI36
NG_008072.1:g.27725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2200A>G	ENSP00000338213.6:p.Lys734Glu
ENST00000380518.8:c.2407A>G MANE Select	ENSP00000369889.3:p.Lys803Glu
ENST00000337299.6:c.2200A>G	ENSP00000338213.6:p.Lys734Glu
ENST00000380518.7:c.2407A>G	ENSP00000369889.3:p.Lys803Glu
ENST00000483376.1:n.585A>G
ENST00000493991.5:n.1493A>G
NM_001844.4:c.2407A>G	NP_001835.3:p.Lys803Glu
NM_033150.2:c.2200A>G	NP_149162.2:p.Lys734Glu
XM_006719242.2:c.2551A>G	XP_006719305.2:p.Lys851Glu
XM_011537928.1:c.2551A>G	XP_011536230.1:p.Lys851Glu
XM_011537929.1:c.2551A>G	XP_011536231.1:p.Lys851Glu
XM_011537930.1:c.2551A>G	XP_011536232.1:p.Lys851Glu
XM_011537931.1:c.2551A>G	XP_011536233.1:p.Lys851Glu
XM_011537932.1:c.2551A>G	XP_011536234.1:p.Lys851Glu
XM_011537933.1:c.2551A>G	XP_011536235.1:p.Lys851Glu
XM_011537934.1:c.2548A>G	XP_011536236.1:p.Lys850Glu
XM_011537935.1:c.1495A>G	XP_011536237.1:p.Lys499Glu
XR_944910.1:n.208+352T>C
XM_017018828.1:c.2551A>G	XP_016874317.1:p.Lys851Glu
XM_017018829.1:c.2548A>G	XP_016874318.1:p.Lys850Glu
XM_017018830.1:c.2341A>G	XP_016874319.1:p.Lys781Glu
XM_017018831.2:c.1861A>G	XP_016874320.1:p.Lys621Glu
NM_001844.5:c.2407A>G MANE Select	NP_001835.3:p.Lys803Glu
NM_033150.3:c.2200A>G	NP_149162.2:p.Lys734Glu