Canonical Allele Identifier: CA363617367

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1369527
• ClinVar RCV Id: RCV001894920
• dbSNP Id: rs2150513204
• MyVariant Identifiers: chr6:g.33132630T>C (hg19) ; chr6:g.33164853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164853T>C , CM000668.2:g.33164853T>C	GRCh38
NC_000006.11:g.33132630T>C , CM000668.1:g.33132630T>C	GRCh37
NC_000006.10:g.33240608T>C	NCBI36
NG_011589.1:g.32616A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.668A>G
ENST00000341947.7:c.4862A>G MANE Select	ENSP00000339915.2:p.Gln1621Arg
ENST00000341947.6:c.4862A>G	ENSP00000339915.2:p.Gln1621Arg
ENST00000361917.5:c.4541A>G	ENSP00000355123.1:p.Gln1514Arg
ENST00000374708.8:c.4604A>G	ENSP00000363840.4:p.Gln1535Arg
ENST00000477772.1:n.652A>G
NM_080679.2:c.4541A>G	NP_542410.2:p.Gln1514Arg
NM_080680.2:c.4862A>G	NP_542411.2:p.Gln1621Arg
NM_080681.2:c.4604A>G	NP_542412.2:p.Gln1535Arg
XM_011514298.1:c.4016A>G	XP_011512600.1:p.Gln1339Arg
XM_011514299.1:c.4148A>G	XP_011512601.1:p.Gln1383Arg
XM_011514300.1:c.3968A>G	XP_011512602.1:p.Gln1323Arg
XM_011514301.1:c.3905A>G	XP_011512603.1:p.Gln1302Arg
XM_011514302.1:c.3749A>G	XP_011512604.1:p.Gln1250Arg
XM_011514299.2:c.4148A>G	XP_011512601.1:p.Gln1383Arg
XM_011514300.2:c.3968A>G	XP_011512602.1:p.Gln1323Arg
XM_011514302.2:c.3749A>G	XP_011512604.1:p.Gln1250Arg
XM_017010250.1:c.4862A>G	XP_016865739.1:p.Gln1621Arg
XM_017010251.2:c.3680A>G	XP_016865740.1:p.Gln1227Arg
NM_080680.3:c.4862A>G MANE Select	NP_542411.2:p.Gln1621Arg
NM_080681.3:c.4604A>G	NP_542412.2:p.Gln1535Arg
NM_080679.3:c.4541A>G	NP_542410.2:p.Gln1514Arg