Canonical Allele Identifier: CA363616442

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132198A>T (hg19) ; chr6:g.33164421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164421A>T , CM000668.2:g.33164421A>T	GRCh38
NC_000006.11:g.33132198A>T , CM000668.1:g.33132198A>T	GRCh37
NC_000006.10:g.33240176A>T	NCBI36
NG_011589.1:g.33048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.722T>A
ENST00000341947.7:c.4916T>A MANE Select	ENSP00000339915.2:p.Phe1639Tyr
ENST00000341947.6:c.4916T>A	ENSP00000339915.2:p.Phe1639Tyr
ENST00000361917.5:c.4595T>A	ENSP00000355123.1:p.Phe1532Tyr
ENST00000374708.8:c.4658T>A	ENSP00000363840.4:p.Phe1553Tyr
ENST00000477772.1:n.706T>A
NM_080679.2:c.4595T>A	NP_542410.2:p.Phe1532Tyr
NM_080680.2:c.4916T>A	NP_542411.2:p.Phe1639Tyr
NM_080681.2:c.4658T>A	NP_542412.2:p.Phe1553Tyr
XM_011514298.1:c.4070T>A	XP_011512600.1:p.Phe1357Tyr
XM_011514299.1:c.4202T>A	XP_011512601.1:p.Phe1401Tyr
XM_011514300.1:c.4022T>A	XP_011512602.1:p.Phe1341Tyr
XM_011514301.1:c.3959T>A	XP_011512603.1:p.Phe1320Tyr
XM_011514302.1:c.3803T>A	XP_011512604.1:p.Phe1268Tyr
XM_011514299.2:c.4202T>A	XP_011512601.1:p.Phe1401Tyr
XM_011514300.2:c.4022T>A	XP_011512602.1:p.Phe1341Tyr
XM_011514302.2:c.3803T>A	XP_011512604.1:p.Phe1268Tyr
XM_017010250.1:c.4916T>A	XP_016865739.1:p.Phe1639Tyr
XM_017010251.2:c.3734T>A	XP_016865740.1:p.Phe1245Tyr
NM_080680.3:c.4916T>A MANE Select	NP_542411.2:p.Phe1639Tyr
NM_080681.3:c.4658T>A	NP_542412.2:p.Phe1553Tyr
NM_080679.3:c.4595T>A	NP_542410.2:p.Phe1532Tyr