Canonical Allele Identifier: CA363644278

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142330C>G (hg19) ; chr6:g.33174553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174553C>G , CM000668.2:g.33174553C>G	GRCh38
NC_000006.11:g.33142330C>G , CM000668.1:g.33142330C>G	GRCh37
NC_000006.10:g.33250308C>G	NCBI36
NG_011589.1:g.22916G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.977G>C
ENST00000341947.7:c.2404G>C MANE Select	ENSP00000339915.2:p.Gly802Arg
ENST00000341947.6:c.2404G>C	ENSP00000339915.2:p.Gly802Arg
ENST00000361917.5:c.2083G>C	ENSP00000355123.1:p.Gly695Arg
ENST00000374708.8:c.2146G>C	ENSP00000363840.4:p.Gly716Arg
ENST00000477772.1:n.272+2456G>C
NM_080679.2:c.2083G>C	NP_542410.2:p.Gly695Arg
NM_080680.2:c.2404G>C	NP_542411.2:p.Gly802Arg
NM_080681.2:c.2146G>C	NP_542412.2:p.Gly716Arg
XM_011514298.1:c.1558G>C	XP_011512600.1:p.Gly520Arg
XM_011514299.1:c.1690G>C	XP_011512601.1:p.Gly564Arg
XM_011514300.1:c.1510G>C	XP_011512602.1:p.Gly504Arg
XM_011514301.1:c.1447G>C	XP_011512603.1:p.Gly483Arg
XM_011514302.1:c.1291G>C	XP_011512604.1:p.Gly431Arg
XM_011514299.2:c.1690G>C	XP_011512601.1:p.Gly564Arg
XM_011514300.2:c.1510G>C	XP_011512602.1:p.Gly504Arg
XM_011514302.2:c.1291G>C	XP_011512604.1:p.Gly431Arg
XM_017010250.1:c.2404G>C	XP_016865739.1:p.Gly802Arg
XM_017010251.2:c.1222G>C	XP_016865740.1:p.Gly408Arg
NM_080680.3:c.2404G>C MANE Select	NP_542411.2:p.Gly802Arg
NM_080681.3:c.2146G>C	NP_542412.2:p.Gly716Arg
NM_080679.3:c.2083G>C	NP_542410.2:p.Gly695Arg