Canonical Allele Identifier: CA449867293

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164897-T-C
• MyVariant Identifiers: chr6:g.33132674T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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