Canonical Allele Identifier: CA363606002

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33179757G>A , CM000668.2:g.33179757G>A	GRCh38
NC_000006.11:g.33147534G>A , CM000668.1:g.33147534G>A	GRCh37
NC_000006.10:g.33255512G>A	NCBI36
NG_011589.1:g.17712C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1408C>T MANE Select	NP_542411.2:p.Gln470Ter
ENST00000341947.7:c.1408C>T MANE Select	ENSP00000339915.2:p.Gln470Ter
NM_080679.2:c.1087C>T	NP_542410.2:p.Gln363Ter
NM_080679.3:c.1087C>T	NP_542410.2:p.Gln363Ter
NM_080680.2:c.1408C>T	NP_542411.2:p.Gln470Ter
NM_080681.2:c.1150C>T	NP_542412.2:p.Gln384Ter
NM_080681.3:c.1150C>T	NP_542412.2:p.Gln384Ter
ENST00000341947.6:c.1408C>T	ENSP00000339915.2:p.Gln470Ter
ENST00000361917.5:c.1087C>T	ENSP00000355123.1:p.Gln363Ter
ENST00000361917.6:c.35C>T
ENST00000374708.8:c.1150C>T	ENSP00000363840.4:p.Gln384Ter
ENST00000457788.5:c.1408C>T	ENSP00000405520.1:p.Gln470Ter
XM_011514298.1:c.562C>T	XP_011512600.1:p.Gln188Ter
XM_011514299.1:c.694C>T	XP_011512601.1:p.Gln232Ter
XM_011514299.2:c.694C>T	XP_011512601.1:p.Gln232Ter
XM_011514300.1:c.514C>T	XP_011512602.1:p.Gln172Ter
XM_011514300.2:c.514C>T	XP_011512602.1:p.Gln172Ter
XM_011514301.1:c.451C>T	XP_011512603.1:p.Gln151Ter
XM_011514302.1:c.295C>T	XP_011512604.1:p.Gln99Ter
XM_011514302.2:c.295C>T	XP_011512604.1:p.Gln99Ter
XM_017010250.1:c.1408C>T	XP_016865739.1:p.Gln470Ter
XM_017010251.2:c.226C>T	XP_016865740.1:p.Gln76Ter