Canonical Allele Identifier: CA363616436

Gene: COL11A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.722T>G
ENST00000341947.7:c.4916T>G MANE Select	ENSP00000339915.2:p.Phe1639Cys
ENST00000341947.6:c.4916T>G	ENSP00000339915.2:p.Phe1639Cys
ENST00000361917.5:c.4595T>G	ENSP00000355123.1:p.Phe1532Cys
ENST00000374708.8:c.4658T>G	ENSP00000363840.4:p.Phe1553Cys
ENST00000477772.1:n.706T>G
NM_080679.2:c.4595T>G	NP_542410.2:p.Phe1532Cys
NM_080680.2:c.4916T>G	NP_542411.2:p.Phe1639Cys
NM_080681.2:c.4658T>G	NP_542412.2:p.Phe1553Cys
XM_011514298.1:c.4070T>G	XP_011512600.1:p.Phe1357Cys
XM_011514299.1:c.4202T>G	XP_011512601.1:p.Phe1401Cys
XM_011514300.1:c.4022T>G	XP_011512602.1:p.Phe1341Cys
XM_011514301.1:c.3959T>G	XP_011512603.1:p.Phe1320Cys
XM_011514302.1:c.3803T>G	XP_011512604.1:p.Phe1268Cys
XM_011514299.2:c.4202T>G	XP_011512601.1:p.Phe1401Cys
XM_011514300.2:c.4022T>G	XP_011512602.1:p.Phe1341Cys
XM_011514302.2:c.3803T>G	XP_011512604.1:p.Phe1268Cys
XM_017010250.1:c.4916T>G	XP_016865739.1:p.Phe1639Cys
XM_017010251.2:c.3734T>G	XP_016865740.1:p.Phe1245Cys
NM_080680.3:c.4916T>G MANE Select	NP_542411.2:p.Phe1639Cys
NM_080681.3:c.4658T>G	NP_542412.2:p.Phe1553Cys
NM_080679.3:c.4595T>G	NP_542410.2:p.Phe1532Cys