Canonical Allele Identifier: CA449872198

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169479-C-T
• MyVariant Identifiers: chr6:g.33137256C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169479C>T , CM000668.2:g.33169479C>T	GRCh38
NC_000006.11:g.33137256C>T , CM000668.1:g.33137256C>T	GRCh37
NC_000006.10:g.33245234C>T	NCBI36
NG_011589.1:g.27990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3702G>A MANE Select	ENSP00000339915.2:p.Gly1234=
ENST00000341947.6:c.3702G>A	ENSP00000339915.2:p.Gly1234=
ENST00000361917.5:c.3381G>A	ENSP00000355123.1:p.Gly1127=
ENST00000374708.8:c.3444G>A	ENSP00000363840.4:p.Gly1148=
ENST00000477772.1:n.273-3663G>A
NM_080679.2:c.3381G>A	NP_542410.2:p.Gly1127=
NM_080680.2:c.3702G>A	NP_542411.2:p.Gly1234=
NM_080681.2:c.3444G>A	NP_542412.2:p.Gly1148=
XM_011514298.1:c.2856G>A	XP_011512600.1:p.Gly952=
XM_011514299.1:c.2988G>A	XP_011512601.1:p.Gly996=
XM_011514300.1:c.2808G>A	XP_011512602.1:p.Gly936=
XM_011514301.1:c.2745G>A	XP_011512603.1:p.Gly915=
XM_011514302.1:c.2589G>A	XP_011512604.1:p.Gly863=
XM_011514299.2:c.2988G>A	XP_011512601.1:p.Gly996=
XM_011514300.2:c.2808G>A	XP_011512602.1:p.Gly936=
XM_011514302.2:c.2589G>A	XP_011512604.1:p.Gly863=
XM_017010250.1:c.3702G>A	XP_016865739.1:p.Gly1234=
XM_017010251.2:c.2520G>A	XP_016865740.1:p.Gly840=
NM_080680.3:c.3702G>A MANE Select	NP_542411.2:p.Gly1234=
NM_080681.3:c.3444G>A	NP_542412.2:p.Gly1148=
NM_080679.3:c.3381G>A	NP_542410.2:p.Gly1127=