Canonical Allele Identifier: CA449866962

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1593826
• ClinVar RCV Id: RCV002105238
• dbSNP Id: rs2150510702
• MyVariant Identifiers: chr6:g.33132134A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164357A>C , CM000668.2:g.33164357A>C	GRCh38
NC_000006.11:g.33132134A>C , CM000668.1:g.33132134A>C	GRCh37
NC_000006.10:g.33240112A>C	NCBI36
NG_011589.1:g.33112T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.786T>G
ENST00000341947.7:c.4980T>G MANE Select	ENSP00000339915.2:p.Arg1660=
ENST00000341947.6:c.4980T>G	ENSP00000339915.2:p.Arg1660=
ENST00000361917.5:c.4659T>G	ENSP00000355123.1:p.Arg1553=
ENST00000374708.8:c.4722T>G	ENSP00000363840.4:p.Arg1574=
ENST00000477772.1:n.770T>G
NM_080679.2:c.4659T>G	NP_542410.2:p.Arg1553=
NM_080680.2:c.4980T>G	NP_542411.2:p.Arg1660=
NM_080681.2:c.4722T>G	NP_542412.2:p.Arg1574=
XM_011514298.1:c.4134T>G	XP_011512600.1:p.Arg1378=
XM_011514299.1:c.4266T>G	XP_011512601.1:p.Arg1422=
XM_011514300.1:c.4086T>G	XP_011512602.1:p.Arg1362=
XM_011514301.1:c.4023T>G	XP_011512603.1:p.Arg1341=
XM_011514302.1:c.3867T>G	XP_011512604.1:p.Arg1289=
XM_011514299.2:c.4266T>G	XP_011512601.1:p.Arg1422=
XM_011514300.2:c.4086T>G	XP_011512602.1:p.Arg1362=
XM_011514302.2:c.3867T>G	XP_011512604.1:p.Arg1289=
XM_017010250.1:c.4980T>G	XP_016865739.1:p.Arg1660=
XM_017010251.2:c.3798T>G	XP_016865740.1:p.Arg1266=
NM_080680.3:c.4980T>G MANE Select	NP_542411.2:p.Arg1660=
NM_080681.3:c.4722T>G	NP_542412.2:p.Arg1574=
NM_080679.3:c.4659T>G	NP_542410.2:p.Arg1553=