Canonical Allele Identifier: CA449867292

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132674T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164897T>A , CM000668.2:g.33164897T>A	GRCh38
NC_000006.11:g.33132674T>A , CM000668.1:g.33132674T>A	GRCh37
NC_000006.10:g.33240652T>A	NCBI36
NG_011589.1:g.32572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.624A>T
ENST00000341947.7:c.4818A>T MANE Select	ENSP00000339915.2:p.Thr1606=
ENST00000341947.6:c.4818A>T	ENSP00000339915.2:p.Thr1606=
ENST00000361917.5:c.4497A>T	ENSP00000355123.1:p.Thr1499=
ENST00000374708.8:c.4560A>T	ENSP00000363840.4:p.Thr1520=
ENST00000477772.1:n.608A>T
NM_080679.2:c.4497A>T	NP_542410.2:p.Thr1499=
NM_080680.2:c.4818A>T	NP_542411.2:p.Thr1606=
NM_080681.2:c.4560A>T	NP_542412.2:p.Thr1520=
XM_011514298.1:c.3972A>T	XP_011512600.1:p.Thr1324=
XM_011514299.1:c.4104A>T	XP_011512601.1:p.Thr1368=
XM_011514300.1:c.3924A>T	XP_011512602.1:p.Thr1308=
XM_011514301.1:c.3861A>T	XP_011512603.1:p.Thr1287=
XM_011514302.1:c.3705A>T	XP_011512604.1:p.Thr1235=
XM_011514299.2:c.4104A>T	XP_011512601.1:p.Thr1368=
XM_011514300.2:c.3924A>T	XP_011512602.1:p.Thr1308=
XM_011514302.2:c.3705A>T	XP_011512604.1:p.Thr1235=
XM_017010250.1:c.4818A>T	XP_016865739.1:p.Thr1606=
XM_017010251.2:c.3636A>T	XP_016865740.1:p.Thr1212=
NM_080680.3:c.4818A>T MANE Select	NP_542411.2:p.Thr1606=
NM_080681.3:c.4560A>T	NP_542412.2:p.Thr1520=
NM_080679.3:c.4497A>T	NP_542410.2:p.Thr1499=