Canonical Allele Identifier: CA363617661

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132699G>T (hg19) ; chr6:g.33164922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164922G>T , CM000668.2:g.33164922G>T	GRCh38
NC_000006.11:g.33132699G>T , CM000668.1:g.33132699G>T	GRCh37
NC_000006.10:g.33240677G>T	NCBI36
NG_011589.1:g.32547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.599C>A
ENST00000341947.7:c.4793C>A MANE Select	ENSP00000339915.2:p.Ala1598Asp
ENST00000341947.6:c.4793C>A	ENSP00000339915.2:p.Ala1598Asp
ENST00000361917.5:c.4472C>A	ENSP00000355123.1:p.Ala1491Asp
ENST00000374708.8:c.4535C>A	ENSP00000363840.4:p.Ala1512Asp
ENST00000477772.1:n.583C>A
NM_080679.2:c.4472C>A	NP_542410.2:p.Ala1491Asp
NM_080680.2:c.4793C>A	NP_542411.2:p.Ala1598Asp
NM_080681.2:c.4535C>A	NP_542412.2:p.Ala1512Asp
XM_011514298.1:c.3947C>A	XP_011512600.1:p.Ala1316Asp
XM_011514299.1:c.4079C>A	XP_011512601.1:p.Ala1360Asp
XM_011514300.1:c.3899C>A	XP_011512602.1:p.Ala1300Asp
XM_011514301.1:c.3836C>A	XP_011512603.1:p.Ala1279Asp
XM_011514302.1:c.3680C>A	XP_011512604.1:p.Ala1227Asp
XM_011514299.2:c.4079C>A	XP_011512601.1:p.Ala1360Asp
XM_011514300.2:c.3899C>A	XP_011512602.1:p.Ala1300Asp
XM_011514302.2:c.3680C>A	XP_011512604.1:p.Ala1227Asp
XM_017010250.1:c.4793C>A	XP_016865739.1:p.Ala1598Asp
XM_017010251.2:c.3611C>A	XP_016865740.1:p.Ala1204Asp
NM_080680.3:c.4793C>A MANE Select	NP_542411.2:p.Ala1598Asp
NM_080681.3:c.4535C>A	NP_542412.2:p.Ala1512Asp
NM_080679.3:c.4472C>A	NP_542410.2:p.Ala1491Asp