Canonical Allele Identifier: CA363649349

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176294C>G , CM000668.2:g.33176294C>G	GRCh38
NC_000006.11:g.33144071C>G , CM000668.1:g.33144071C>G	GRCh37
NC_000006.10:g.33252049C>G	NCBI36
NG_011589.1:g.21175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.752G>C
ENST00000341947.7:c.2179G>C MANE Select	ENSP00000339915.2:p.Gly727Arg
ENST00000341947.6:c.2179G>C	ENSP00000339915.2:p.Gly727Arg
ENST00000361917.5:c.1858G>C	ENSP00000355123.1:p.Gly620Arg
ENST00000374708.8:c.1921G>C	ENSP00000363840.4:p.Gly641Arg
ENST00000477772.1:n.272+715G>C
NM_080679.2:c.1858G>C	NP_542410.2:p.Gly620Arg
NM_080680.2:c.2179G>C	NP_542411.2:p.Gly727Arg
NM_080681.2:c.1921G>C	NP_542412.2:p.Gly641Arg
XM_011514298.1:c.1333G>C	XP_011512600.1:p.Gly445Arg
XM_011514299.1:c.1465G>C	XP_011512601.1:p.Gly489Arg
XM_011514300.1:c.1285G>C	XP_011512602.1:p.Gly429Arg
XM_011514301.1:c.1222G>C	XP_011512603.1:p.Gly408Arg
XM_011514302.1:c.1066G>C	XP_011512604.1:p.Gly356Arg
XM_011514299.2:c.1465G>C	XP_011512601.1:p.Gly489Arg
XM_011514300.2:c.1285G>C	XP_011512602.1:p.Gly429Arg
XM_011514302.2:c.1066G>C	XP_011512604.1:p.Gly356Arg
XM_017010250.1:c.2179G>C	XP_016865739.1:p.Gly727Arg
XM_017010251.2:c.997G>C	XP_016865740.1:p.Gly333Arg
NM_080680.3:c.2179G>C MANE Select	NP_542411.2:p.Gly727Arg
NM_080681.3:c.1921G>C	NP_542412.2:p.Gly641Arg
NM_080679.3:c.1858G>C	NP_542410.2:p.Gly620Arg