Canonical Allele Identifier: CA363634626

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138929G>T (hg19) ; chr6:g.33171152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171152G>T , CM000668.2:g.33171152G>T	GRCh38
NC_000006.11:g.33138929G>T , CM000668.1:g.33138929G>T	GRCh37
NC_000006.10:g.33246907G>T	NCBI36
NG_011589.1:g.26317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3328C>A MANE Select	ENSP00000339915.2:p.Pro1110Thr
ENST00000341947.6:c.3328C>A	ENSP00000339915.2:p.Pro1110Thr
ENST00000361917.5:c.3007C>A	ENSP00000355123.1:p.Pro1003Thr
ENST00000374708.8:c.3070C>A	ENSP00000363840.4:p.Pro1024Thr
ENST00000477772.1:n.273-5336C>A
NM_080679.2:c.3007C>A	NP_542410.2:p.Pro1003Thr
NM_080680.2:c.3328C>A	NP_542411.2:p.Pro1110Thr
NM_080681.2:c.3070C>A	NP_542412.2:p.Pro1024Thr
XM_011514298.1:c.2482C>A	XP_011512600.1:p.Pro828Thr
XM_011514299.1:c.2614C>A	XP_011512601.1:p.Pro872Thr
XM_011514300.1:c.2434C>A	XP_011512602.1:p.Pro812Thr
XM_011514301.1:c.2371C>A	XP_011512603.1:p.Pro791Thr
XM_011514302.1:c.2215C>A	XP_011512604.1:p.Pro739Thr
XM_011514299.2:c.2614C>A	XP_011512601.1:p.Pro872Thr
XM_011514300.2:c.2434C>A	XP_011512602.1:p.Pro812Thr
XM_011514302.2:c.2215C>A	XP_011512604.1:p.Pro739Thr
XM_017010250.1:c.3328C>A	XP_016865739.1:p.Pro1110Thr
XM_017010251.2:c.2146C>A	XP_016865740.1:p.Pro716Thr
NM_080680.3:c.3328C>A MANE Select	NP_542411.2:p.Pro1110Thr
NM_080681.3:c.3070C>A	NP_542412.2:p.Pro1024Thr
NM_080679.3:c.3007C>A	NP_542410.2:p.Pro1003Thr