Canonical Allele Identifier: CA363627946

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137239C>T (hg19) ; chr6:g.33169462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169462C>T , CM000668.2:g.33169462C>T	GRCh38
NC_000006.11:g.33137239C>T , CM000668.1:g.33137239C>T	GRCh37
NC_000006.10:g.33245217C>T	NCBI36
NG_011589.1:g.28007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3719G>A MANE Select	ENSP00000339915.2:p.Gly1240Glu
ENST00000341947.6:c.3719G>A	ENSP00000339915.2:p.Gly1240Glu
ENST00000361917.5:c.3398G>A	ENSP00000355123.1:p.Gly1133Glu
ENST00000374708.8:c.3461G>A	ENSP00000363840.4:p.Gly1154Glu
ENST00000477772.1:n.273-3646G>A
NM_080679.2:c.3398G>A	NP_542410.2:p.Gly1133Glu
NM_080680.2:c.3719G>A	NP_542411.2:p.Gly1240Glu
NM_080681.2:c.3461G>A	NP_542412.2:p.Gly1154Glu
XM_011514298.1:c.2873G>A	XP_011512600.1:p.Gly958Glu
XM_011514299.1:c.3005G>A	XP_011512601.1:p.Gly1002Glu
XM_011514300.1:c.2825G>A	XP_011512602.1:p.Gly942Glu
XM_011514301.1:c.2762G>A	XP_011512603.1:p.Gly921Glu
XM_011514302.1:c.2606G>A	XP_011512604.1:p.Gly869Glu
XM_011514299.2:c.3005G>A	XP_011512601.1:p.Gly1002Glu
XM_011514300.2:c.2825G>A	XP_011512602.1:p.Gly942Glu
XM_011514302.2:c.2606G>A	XP_011512604.1:p.Gly869Glu
XM_017010250.1:c.3719G>A	XP_016865739.1:p.Gly1240Glu
XM_017010251.2:c.2537G>A	XP_016865740.1:p.Gly846Glu
NM_080680.3:c.3719G>A MANE Select	NP_542411.2:p.Gly1240Glu
NM_080681.3:c.3461G>A	NP_542412.2:p.Gly1154Glu
NM_080679.3:c.3398G>A	NP_542410.2:p.Gly1133Glu