Canonical Allele Identifier: CA449867317

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132707A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164930A>T , CM000668.2:g.33164930A>T	GRCh38
NC_000006.11:g.33132707A>T , CM000668.1:g.33132707A>T	GRCh37
NC_000006.10:g.33240685A>T	NCBI36
NG_011589.1:g.32539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.591T>A
ENST00000341947.7:c.4785T>A MANE Select	ENSP00000339915.2:p.Ala1595=
ENST00000341947.6:c.4785T>A	ENSP00000339915.2:p.Ala1595=
ENST00000361917.5:c.4464T>A	ENSP00000355123.1:p.Ala1488=
ENST00000374708.8:c.4527T>A	ENSP00000363840.4:p.Ala1509=
ENST00000477772.1:n.575T>A
NM_080679.2:c.4464T>A	NP_542410.2:p.Ala1488=
NM_080680.2:c.4785T>A	NP_542411.2:p.Ala1595=
NM_080681.2:c.4527T>A	NP_542412.2:p.Ala1509=
XM_011514298.1:c.3939T>A	XP_011512600.1:p.Ala1313=
XM_011514299.1:c.4071T>A	XP_011512601.1:p.Ala1357=
XM_011514300.1:c.3891T>A	XP_011512602.1:p.Ala1297=
XM_011514301.1:c.3828T>A	XP_011512603.1:p.Ala1276=
XM_011514302.1:c.3672T>A	XP_011512604.1:p.Ala1224=
XM_011514299.2:c.4071T>A	XP_011512601.1:p.Ala1357=
XM_011514300.2:c.3891T>A	XP_011512602.1:p.Ala1297=
XM_011514302.2:c.3672T>A	XP_011512604.1:p.Ala1224=
XM_017010250.1:c.4785T>A	XP_016865739.1:p.Ala1595=
XM_017010251.2:c.3603T>A	XP_016865740.1:p.Ala1201=
NM_080680.3:c.4785T>A MANE Select	NP_542411.2:p.Ala1595=
NM_080681.3:c.4527T>A	NP_542412.2:p.Ala1509=
NM_080679.3:c.4464T>A	NP_542410.2:p.Ala1488=