Canonical Allele Identifier: CA363634666

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138934C>T (hg19) ; chr6:g.33171157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171157C>T , CM000668.2:g.33171157C>T	GRCh38
NC_000006.11:g.33138934C>T , CM000668.1:g.33138934C>T	GRCh37
NC_000006.10:g.33246912C>T	NCBI36
NG_011589.1:g.26312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3323G>A MANE Select	ENSP00000339915.2:p.Gly1108Glu
ENST00000341947.6:c.3323G>A	ENSP00000339915.2:p.Gly1108Glu
ENST00000361917.5:c.3002G>A	ENSP00000355123.1:p.Gly1001Glu
ENST00000374708.8:c.3065G>A	ENSP00000363840.4:p.Gly1022Glu
ENST00000477772.1:n.273-5341G>A
NM_080679.2:c.3002G>A	NP_542410.2:p.Gly1001Glu
NM_080680.2:c.3323G>A	NP_542411.2:p.Gly1108Glu
NM_080681.2:c.3065G>A	NP_542412.2:p.Gly1022Glu
XM_011514298.1:c.2477G>A	XP_011512600.1:p.Gly826Glu
XM_011514299.1:c.2609G>A	XP_011512601.1:p.Gly870Glu
XM_011514300.1:c.2429G>A	XP_011512602.1:p.Gly810Glu
XM_011514301.1:c.2366G>A	XP_011512603.1:p.Gly789Glu
XM_011514302.1:c.2210G>A	XP_011512604.1:p.Gly737Glu
XM_011514299.2:c.2609G>A	XP_011512601.1:p.Gly870Glu
XM_011514300.2:c.2429G>A	XP_011512602.1:p.Gly810Glu
XM_011514302.2:c.2210G>A	XP_011512604.1:p.Gly737Glu
XM_017010250.1:c.3323G>A	XP_016865739.1:p.Gly1108Glu
XM_017010251.2:c.2141G>A	XP_016865740.1:p.Gly714Glu
NM_080680.3:c.3323G>A MANE Select	NP_542411.2:p.Gly1108Glu
NM_080681.3:c.3065G>A	NP_542412.2:p.Gly1022Glu
NM_080679.3:c.3002G>A	NP_542410.2:p.Gly1001Glu