Canonical Allele Identifier: CA363636229

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33139338G>T (hg19) ; chr6:g.33171561G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171561G>T , CM000668.2:g.33171561G>T	GRCh38
NC_000006.11:g.33139338G>T , CM000668.1:g.33139338G>T	GRCh37
NC_000006.10:g.33247316G>T	NCBI36
NG_011589.1:g.25908C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.3164C>A MANE Select	ENSP00000339915.2:p.Pro1055His
ENST00000341947.6:c.3164C>A	ENSP00000339915.2:p.Pro1055His
ENST00000361917.5:c.2843C>A	ENSP00000355123.1:p.Pro948His
ENST00000374708.8:c.2906C>A	ENSP00000363840.4:p.Pro969His
ENST00000477772.1:n.272+5448C>A
NM_080679.2:c.2843C>A	NP_542410.2:p.Pro948His
NM_080680.2:c.3164C>A	NP_542411.2:p.Pro1055His
NM_080681.2:c.2906C>A	NP_542412.2:p.Pro969His
XM_011514298.1:c.2318C>A	XP_011512600.1:p.Pro773His
XM_011514299.1:c.2450C>A	XP_011512601.1:p.Pro817His
XM_011514300.1:c.2270C>A	XP_011512602.1:p.Pro757His
XM_011514301.1:c.2207C>A	XP_011512603.1:p.Pro736His
XM_011514302.1:c.2051C>A	XP_011512604.1:p.Pro684His
XM_011514299.2:c.2450C>A	XP_011512601.1:p.Pro817His
XM_011514300.2:c.2270C>A	XP_011512602.1:p.Pro757His
XM_011514302.2:c.2051C>A	XP_011512604.1:p.Pro684His
XM_017010250.1:c.3164C>A	XP_016865739.1:p.Pro1055His
XM_017010251.2:c.1982C>A	XP_016865740.1:p.Pro661His
NM_080680.3:c.3164C>A MANE Select	NP_542411.2:p.Pro1055His
NM_080681.3:c.2906C>A	NP_542412.2:p.Pro969His
NM_080679.3:c.2843C>A	NP_542410.2:p.Pro948His