Canonical Allele Identifier: CA363606238

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33180320G>A , CM000668.2:g.33180320G>A	GRCh38
NC_000006.11:g.33148097G>A , CM000668.1:g.33148097G>A	GRCh37
NC_000006.10:g.33256075G>A	NCBI36
NG_011589.1:g.17149C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1297C>T MANE Select	NP_542411.2:p.Arg433Ter
ENST00000341947.7:c.1297C>T MANE Select	ENSP00000339915.2:p.Arg433Ter
NM_080679.2:c.976C>T	NP_542410.2:p.Arg326Ter
NM_080679.3:c.976C>T	NP_542410.2:p.Arg326Ter
NM_080680.2:c.1297C>T	NP_542411.2:p.Arg433Ter
NM_080681.2:c.1039C>T	NP_542412.2:p.Arg347Ter
NM_080681.3:c.1039C>T	NP_542412.2:p.Arg347Ter
ENST00000341947.6:c.1297C>T	ENSP00000339915.2:p.Arg433Ter
ENST00000361917.5:c.976C>T	ENSP00000355123.1:p.Arg326Ter
ENST00000374708.8:c.1039C>T	ENSP00000363840.4:p.Arg347Ter
ENST00000457788.5:c.1297C>T	ENSP00000405520.1:p.Arg433Ter
XM_011514298.1:c.451C>T	XP_011512600.1:p.Arg151Ter
XM_011514299.1:c.583C>T	XP_011512601.1:p.Arg195Ter
XM_011514299.2:c.583C>T	XP_011512601.1:p.Arg195Ter
XM_011514300.1:c.403C>T	XP_011512602.1:p.Arg135Ter
XM_011514300.2:c.403C>T	XP_011512602.1:p.Arg135Ter
XM_011514301.1:c.340C>T	XP_011512603.1:p.Arg114Ter
XM_011514302.1:c.184C>T	XP_011512604.1:p.Arg62Ter
XM_011514302.2:c.184C>T	XP_011512604.1:p.Arg62Ter
XM_017010250.1:c.1297C>T	XP_016865739.1:p.Arg433Ter
XM_017010251.2:c.115C>T	XP_016865740.1:p.Arg39Ter