Canonical Allele Identifier: CA363617645

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132696A>T (hg19) ; chr6:g.33164919A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164919A>T , CM000668.2:g.33164919A>T	GRCh38
NC_000006.11:g.33132696A>T , CM000668.1:g.33132696A>T	GRCh37
NC_000006.10:g.33240674A>T	NCBI36
NG_011589.1:g.32550T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.602T>A
ENST00000341947.7:c.4796T>A MANE Select	ENSP00000339915.2:p.Phe1599Tyr
ENST00000341947.6:c.4796T>A	ENSP00000339915.2:p.Phe1599Tyr
ENST00000361917.5:c.4475T>A	ENSP00000355123.1:p.Phe1492Tyr
ENST00000374708.8:c.4538T>A	ENSP00000363840.4:p.Phe1513Tyr
ENST00000477772.1:n.586T>A
NM_080679.2:c.4475T>A	NP_542410.2:p.Phe1492Tyr
NM_080680.2:c.4796T>A	NP_542411.2:p.Phe1599Tyr
NM_080681.2:c.4538T>A	NP_542412.2:p.Phe1513Tyr
XM_011514298.1:c.3950T>A	XP_011512600.1:p.Phe1317Tyr
XM_011514299.1:c.4082T>A	XP_011512601.1:p.Phe1361Tyr
XM_011514300.1:c.3902T>A	XP_011512602.1:p.Phe1301Tyr
XM_011514301.1:c.3839T>A	XP_011512603.1:p.Phe1280Tyr
XM_011514302.1:c.3683T>A	XP_011512604.1:p.Phe1228Tyr
XM_011514299.2:c.4082T>A	XP_011512601.1:p.Phe1361Tyr
XM_011514300.2:c.3902T>A	XP_011512602.1:p.Phe1301Tyr
XM_011514302.2:c.3683T>A	XP_011512604.1:p.Phe1228Tyr
XM_017010250.1:c.4796T>A	XP_016865739.1:p.Phe1599Tyr
XM_017010251.2:c.3614T>A	XP_016865740.1:p.Phe1205Tyr
NM_080680.3:c.4796T>A MANE Select	NP_542411.2:p.Phe1599Tyr
NM_080681.3:c.4538T>A	NP_542412.2:p.Phe1513Tyr
NM_080679.3:c.4475T>A	NP_542410.2:p.Phe1492Tyr