Canonical Allele Identifier: CA363634752

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138940G>T (hg19) ; chr6:g.33171163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171163G>T , CM000668.2:g.33171163G>T	GRCh38
NC_000006.11:g.33138940G>T , CM000668.1:g.33138940G>T	GRCh37
NC_000006.10:g.33246918G>T	NCBI36
NG_011589.1:g.26306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3317C>A MANE Select	ENSP00000339915.2:p.Pro1106His
ENST00000341947.6:c.3317C>A	ENSP00000339915.2:p.Pro1106His
ENST00000361917.5:c.2996C>A	ENSP00000355123.1:p.Pro999His
ENST00000374708.8:c.3059C>A	ENSP00000363840.4:p.Pro1020His
ENST00000477772.1:n.273-5347C>A
NM_080679.2:c.2996C>A	NP_542410.2:p.Pro999His
NM_080680.2:c.3317C>A	NP_542411.2:p.Pro1106His
NM_080681.2:c.3059C>A	NP_542412.2:p.Pro1020His
XM_011514298.1:c.2471C>A	XP_011512600.1:p.Pro824His
XM_011514299.1:c.2603C>A	XP_011512601.1:p.Pro868His
XM_011514300.1:c.2423C>A	XP_011512602.1:p.Pro808His
XM_011514301.1:c.2360C>A	XP_011512603.1:p.Pro787His
XM_011514302.1:c.2204C>A	XP_011512604.1:p.Pro735His
XM_011514299.2:c.2603C>A	XP_011512601.1:p.Pro868His
XM_011514300.2:c.2423C>A	XP_011512602.1:p.Pro808His
XM_011514302.2:c.2204C>A	XP_011512604.1:p.Pro735His
XM_017010250.1:c.3317C>A	XP_016865739.1:p.Pro1106His
XM_017010251.2:c.2135C>A	XP_016865740.1:p.Pro712His
NM_080680.3:c.3317C>A MANE Select	NP_542411.2:p.Pro1106His
NM_080681.3:c.3059C>A	NP_542412.2:p.Pro1020His
NM_080679.3:c.2996C>A	NP_542410.2:p.Pro999His