Canonical Allele Identifier: CA363644245

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142327A>C (hg19) ; chr6:g.33174550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174550A>C , CM000668.2:g.33174550A>C	GRCh38
NC_000006.11:g.33142327A>C , CM000668.1:g.33142327A>C	GRCh37
NC_000006.10:g.33250305A>C	NCBI36
NG_011589.1:g.22919T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.980T>G
ENST00000341947.7:c.2407T>G MANE Select	ENSP00000339915.2:p.Tyr803Asp
ENST00000341947.6:c.2407T>G	ENSP00000339915.2:p.Tyr803Asp
ENST00000361917.5:c.2086T>G	ENSP00000355123.1:p.Tyr696Asp
ENST00000374708.8:c.2149T>G	ENSP00000363840.4:p.Tyr717Asp
ENST00000477772.1:n.272+2459T>G
NM_080679.2:c.2086T>G	NP_542410.2:p.Tyr696Asp
NM_080680.2:c.2407T>G	NP_542411.2:p.Tyr803Asp
NM_080681.2:c.2149T>G	NP_542412.2:p.Tyr717Asp
XM_011514298.1:c.1561T>G	XP_011512600.1:p.Tyr521Asp
XM_011514299.1:c.1693T>G	XP_011512601.1:p.Tyr565Asp
XM_011514300.1:c.1513T>G	XP_011512602.1:p.Tyr505Asp
XM_011514301.1:c.1450T>G	XP_011512603.1:p.Tyr484Asp
XM_011514302.1:c.1294T>G	XP_011512604.1:p.Tyr432Asp
XM_011514299.2:c.1693T>G	XP_011512601.1:p.Tyr565Asp
XM_011514300.2:c.1513T>G	XP_011512602.1:p.Tyr505Asp
XM_011514302.2:c.1294T>G	XP_011512604.1:p.Tyr432Asp
XM_017010250.1:c.2407T>G	XP_016865739.1:p.Tyr803Asp
XM_017010251.2:c.1225T>G	XP_016865740.1:p.Tyr409Asp
NM_080680.3:c.2407T>G MANE Select	NP_542411.2:p.Tyr803Asp
NM_080681.3:c.2149T>G	NP_542412.2:p.Tyr717Asp
NM_080679.3:c.2086T>G	NP_542410.2:p.Tyr696Asp