Canonical Allele Identifier: CA3751251

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178726G>A , CM000668.2:g.33178726G>A	GRCh38
NC_000006.11:g.33146503G>A , CM000668.1:g.33146503G>A	GRCh37
NC_000006.10:g.33254481G>A	NCBI36
NG_011589.1:g.18743C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1672C>T MANE Select	NP_542411.2:p.Arg558Ter
ENST00000341947.7:c.1672C>T MANE Select	ENSP00000339915.2:p.Arg558Ter
NM_080679.2:c.1351C>T	NP_542410.2:p.Arg451Ter
NM_080679.3:c.1351C>T	NP_542410.2:p.Arg451Ter
NM_080680.2:c.1672C>T	NP_542411.2:p.Arg558Ter
NM_080681.2:c.1414C>T	NP_542412.2:p.Arg472Ter
NM_080681.3:c.1414C>T	NP_542412.2:p.Arg472Ter
ENST00000341947.6:c.1672C>T	ENSP00000339915.2:p.Arg558Ter
ENST00000361917.5:c.1351C>T	ENSP00000355123.1:p.Arg451Ter
ENST00000361917.6:c.299C>T
ENST00000374708.8:c.1414C>T	ENSP00000363840.4:p.Arg472Ter
ENST00000457788.5:c.1672C>T	ENSP00000405520.1:p.Arg558Ter
XM_011514298.1:c.826C>T	XP_011512600.1:p.Arg276Ter
XM_011514299.1:c.958C>T	XP_011512601.1:p.Arg320Ter
XM_011514299.2:c.958C>T	XP_011512601.1:p.Arg320Ter
XM_011514300.1:c.778C>T	XP_011512602.1:p.Arg260Ter
XM_011514300.2:c.778C>T	XP_011512602.1:p.Arg260Ter
XM_011514301.1:c.715C>T	XP_011512603.1:p.Arg239Ter
XM_011514302.1:c.559C>T	XP_011512604.1:p.Arg187Ter
XM_011514302.2:c.559C>T	XP_011512604.1:p.Arg187Ter
XM_017010250.1:c.1672C>T	XP_016865739.1:p.Arg558Ter
XM_017010251.2:c.490C>T	XP_016865740.1:p.Arg164Ter