Canonical Allele Identifier: CA363656287

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178143G>C , CM000668.2:g.33178143G>C	GRCh38
NC_000006.11:g.33145920G>C , CM000668.1:g.33145920G>C	GRCh37
NC_000006.10:g.33253898G>C	NCBI36
NG_011589.1:g.19326C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1861C>G MANE Select	NP_542411.2:p.Pro621Ala
ENST00000341947.7:c.1861C>G MANE Select	ENSP00000339915.2:p.Pro621Ala
NM_080679.2:c.1540C>G	NP_542410.2:p.Pro514Ala
NM_080679.3:c.1540C>G	NP_542410.2:p.Pro514Ala
NM_080680.2:c.1861C>G	NP_542411.2:p.Pro621Ala
NM_080681.2:c.1603C>G	NP_542412.2:p.Pro535Ala
NM_080681.3:c.1603C>G	NP_542412.2:p.Pro535Ala
ENST00000341947.6:c.1861C>G	ENSP00000339915.2:p.Pro621Ala
ENST00000361917.5:c.1540C>G	ENSP00000355123.1:p.Pro514Ala
ENST00000361917.6:c.445+165C>G
ENST00000374708.8:c.1603C>G	ENSP00000363840.4:p.Pro535Ala
ENST00000457788.5:c.1861C>G	ENSP00000405520.1:p.Pro621Ala
XM_011514298.1:c.1015C>G	XP_011512600.1:p.Pro339Ala
XM_011514299.1:c.1147C>G	XP_011512601.1:p.Pro383Ala
XM_011514299.2:c.1147C>G	XP_011512601.1:p.Pro383Ala
XM_011514300.1:c.967C>G	XP_011512602.1:p.Pro323Ala
XM_011514300.2:c.967C>G	XP_011512602.1:p.Pro323Ala
XM_011514301.1:c.904C>G	XP_011512603.1:p.Pro302Ala
XM_011514302.1:c.748C>G	XP_011512604.1:p.Pro250Ala
XM_011514302.2:c.748C>G	XP_011512604.1:p.Pro250Ala
XM_017010250.1:c.1861C>G	XP_016865739.1:p.Pro621Ala
XM_017010251.2:c.679C>G	XP_016865740.1:p.Pro227Ala