Canonical Allele Identifier: CA3751226

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178482T>C , CM000668.2:g.33178482T>C	GRCh38
NC_000006.11:g.33146259T>C , CM000668.1:g.33146259T>C	GRCh37
NC_000006.10:g.33254237T>C	NCBI36
NG_011589.1:g.18987A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1726A>G MANE Select	NP_542411.2:p.Thr576Ala
ENST00000341947.7:c.1726A>G MANE Select	ENSP00000339915.2:p.Thr576Ala
NM_080679.2:c.1405A>G	NP_542410.2:p.Thr469Ala
NM_080679.3:c.1405A>G	NP_542410.2:p.Thr469Ala
NM_080680.2:c.1726A>G	NP_542411.2:p.Thr576Ala
NM_080681.2:c.1468A>G	NP_542412.2:p.Thr490Ala
NM_080681.3:c.1468A>G	NP_542412.2:p.Thr490Ala
ENST00000341947.6:c.1726A>G	ENSP00000339915.2:p.Thr576Ala
ENST00000361917.5:c.1405A>G	ENSP00000355123.1:p.Thr469Ala
ENST00000361917.6:c.353A>G
ENST00000374708.8:c.1468A>G	ENSP00000363840.4:p.Thr490Ala
ENST00000457788.5:c.1726A>G	ENSP00000405520.1:p.Thr576Ala
XM_011514298.1:c.880A>G	XP_011512600.1:p.Thr294Ala
XM_011514299.1:c.1012A>G	XP_011512601.1:p.Thr338Ala
XM_011514299.2:c.1012A>G	XP_011512601.1:p.Thr338Ala
XM_011514300.1:c.832A>G	XP_011512602.1:p.Thr278Ala
XM_011514300.2:c.832A>G	XP_011512602.1:p.Thr278Ala
XM_011514301.1:c.769A>G	XP_011512603.1:p.Thr257Ala
XM_011514302.1:c.613A>G	XP_011512604.1:p.Thr205Ala
XM_011514302.2:c.613A>G	XP_011512604.1:p.Thr205Ala
XM_017010250.1:c.1726A>G	XP_016865739.1:p.Thr576Ala
XM_017010251.2:c.544A>G	XP_016865740.1:p.Thr182Ala