Canonical Allele Identifier: CA363644207

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142321C>G (hg19) ; chr6:g.33174544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174544C>G , CM000668.2:g.33174544C>G	GRCh38
NC_000006.11:g.33142321C>G , CM000668.1:g.33142321C>G	GRCh37
NC_000006.10:g.33250299C>G	NCBI36
NG_011589.1:g.22925G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.986G>C
ENST00000341947.7:c.2413G>C MANE Select	ENSP00000339915.2:p.Gly805Arg
ENST00000341947.6:c.2413G>C	ENSP00000339915.2:p.Gly805Arg
ENST00000361917.5:c.2092G>C	ENSP00000355123.1:p.Gly698Arg
ENST00000374708.8:c.2155G>C	ENSP00000363840.4:p.Gly719Arg
ENST00000477772.1:n.272+2465G>C
NM_080679.2:c.2092G>C	NP_542410.2:p.Gly698Arg
NM_080680.2:c.2413G>C	NP_542411.2:p.Gly805Arg
NM_080681.2:c.2155G>C	NP_542412.2:p.Gly719Arg
XM_011514298.1:c.1567G>C	XP_011512600.1:p.Gly523Arg
XM_011514299.1:c.1699G>C	XP_011512601.1:p.Gly567Arg
XM_011514300.1:c.1519G>C	XP_011512602.1:p.Gly507Arg
XM_011514301.1:c.1456G>C	XP_011512603.1:p.Gly486Arg
XM_011514302.1:c.1300G>C	XP_011512604.1:p.Gly434Arg
XM_011514299.2:c.1699G>C	XP_011512601.1:p.Gly567Arg
XM_011514300.2:c.1519G>C	XP_011512602.1:p.Gly507Arg
XM_011514302.2:c.1300G>C	XP_011512604.1:p.Gly434Arg
XM_017010250.1:c.2413G>C	XP_016865739.1:p.Gly805Arg
XM_017010251.2:c.1231G>C	XP_016865740.1:p.Gly411Arg
NM_080680.3:c.2413G>C MANE Select	NP_542411.2:p.Gly805Arg
NM_080681.3:c.2155G>C	NP_542412.2:p.Gly719Arg
NM_080679.3:c.2092G>C	NP_542410.2:p.Gly698Arg