Canonical Allele Identifier: CA363644128

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174534C>G , CM000668.2:g.33174534C>G	GRCh38
NC_000006.11:g.33142311C>G , CM000668.1:g.33142311C>G	GRCh37
NC_000006.10:g.33250289C>G	NCBI36
NG_011589.1:g.22935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.996G>C
ENST00000341947.7:c.2423G>C MANE Select	ENSP00000339915.2:p.Gly808Ala
ENST00000341947.6:c.2423G>C	ENSP00000339915.2:p.Gly808Ala
ENST00000361917.5:c.2102G>C	ENSP00000355123.1:p.Gly701Ala
ENST00000374708.8:c.2165G>C	ENSP00000363840.4:p.Gly722Ala
ENST00000477772.1:n.272+2475G>C
NM_080679.2:c.2102G>C	NP_542410.2:p.Gly701Ala
NM_080680.2:c.2423G>C	NP_542411.2:p.Gly808Ala
NM_080681.2:c.2165G>C	NP_542412.2:p.Gly722Ala
XM_011514298.1:c.1577G>C	XP_011512600.1:p.Gly526Ala
XM_011514299.1:c.1709G>C	XP_011512601.1:p.Gly570Ala
XM_011514300.1:c.1529G>C	XP_011512602.1:p.Gly510Ala
XM_011514301.1:c.1466G>C	XP_011512603.1:p.Gly489Ala
XM_011514302.1:c.1310G>C	XP_011512604.1:p.Gly437Ala
XM_011514299.2:c.1709G>C	XP_011512601.1:p.Gly570Ala
XM_011514300.2:c.1529G>C	XP_011512602.1:p.Gly510Ala
XM_011514302.2:c.1310G>C	XP_011512604.1:p.Gly437Ala
XM_017010250.1:c.2423G>C	XP_016865739.1:p.Gly808Ala
XM_017010251.2:c.1241G>C	XP_016865740.1:p.Gly414Ala
NM_080680.3:c.2423G>C MANE Select	NP_542411.2:p.Gly808Ala
NM_080681.3:c.2165G>C	NP_542412.2:p.Gly722Ala
NM_080679.3:c.2102G>C	NP_542410.2:p.Gly701Ala