Canonical Allele Identifier: CA363628118

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137263G>T (hg19) ; chr6:g.33169486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169486G>T , CM000668.2:g.33169486G>T	GRCh38
NC_000006.11:g.33137263G>T , CM000668.1:g.33137263G>T	GRCh37
NC_000006.10:g.33245241G>T	NCBI36
NG_011589.1:g.27983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3695C>A MANE Select	ENSP00000339915.2:p.Pro1232Gln
ENST00000341947.6:c.3695C>A	ENSP00000339915.2:p.Pro1232Gln
ENST00000361917.5:c.3374C>A	ENSP00000355123.1:p.Pro1125Gln
ENST00000374708.8:c.3437C>A	ENSP00000363840.4:p.Pro1146Gln
ENST00000477772.1:n.273-3670C>A
NM_080679.2:c.3374C>A	NP_542410.2:p.Pro1125Gln
NM_080680.2:c.3695C>A	NP_542411.2:p.Pro1232Gln
NM_080681.2:c.3437C>A	NP_542412.2:p.Pro1146Gln
XM_011514298.1:c.2849C>A	XP_011512600.1:p.Pro950Gln
XM_011514299.1:c.2981C>A	XP_011512601.1:p.Pro994Gln
XM_011514300.1:c.2801C>A	XP_011512602.1:p.Pro934Gln
XM_011514301.1:c.2738C>A	XP_011512603.1:p.Pro913Gln
XM_011514302.1:c.2582C>A	XP_011512604.1:p.Pro861Gln
XM_011514299.2:c.2981C>A	XP_011512601.1:p.Pro994Gln
XM_011514300.2:c.2801C>A	XP_011512602.1:p.Pro934Gln
XM_011514302.2:c.2582C>A	XP_011512604.1:p.Pro861Gln
XM_017010250.1:c.3695C>A	XP_016865739.1:p.Pro1232Gln
XM_017010251.2:c.2513C>A	XP_016865740.1:p.Pro838Gln
NM_080680.3:c.3695C>A MANE Select	NP_542411.2:p.Pro1232Gln
NM_080681.3:c.3437C>A	NP_542412.2:p.Pro1146Gln
NM_080679.3:c.3374C>A	NP_542410.2:p.Pro1125Gln