Canonical Allele Identifier: CA363634641

Gene: COL11A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3328C>G MANE Select	ENSP00000339915.2:p.Pro1110Ala
ENST00000341947.6:c.3328C>G	ENSP00000339915.2:p.Pro1110Ala
ENST00000361917.5:c.3007C>G	ENSP00000355123.1:p.Pro1003Ala
ENST00000374708.8:c.3070C>G	ENSP00000363840.4:p.Pro1024Ala
ENST00000477772.1:n.273-5336C>G
NM_080679.2:c.3007C>G	NP_542410.2:p.Pro1003Ala
NM_080680.2:c.3328C>G	NP_542411.2:p.Pro1110Ala
NM_080681.2:c.3070C>G	NP_542412.2:p.Pro1024Ala
XM_011514298.1:c.2482C>G	XP_011512600.1:p.Pro828Ala
XM_011514299.1:c.2614C>G	XP_011512601.1:p.Pro872Ala
XM_011514300.1:c.2434C>G	XP_011512602.1:p.Pro812Ala
XM_011514301.1:c.2371C>G	XP_011512603.1:p.Pro791Ala
XM_011514302.1:c.2215C>G	XP_011512604.1:p.Pro739Ala
XM_011514299.2:c.2614C>G	XP_011512601.1:p.Pro872Ala
XM_011514300.2:c.2434C>G	XP_011512602.1:p.Pro812Ala
XM_011514302.2:c.2215C>G	XP_011512604.1:p.Pro739Ala
XM_017010250.1:c.3328C>G	XP_016865739.1:p.Pro1110Ala
XM_017010251.2:c.2146C>G	XP_016865740.1:p.Pro716Ala
NM_080680.3:c.3328C>G MANE Select	NP_542411.2:p.Pro1110Ala
NM_080681.3:c.3070C>G	NP_542412.2:p.Pro1024Ala
NM_080679.3:c.3007C>G	NP_542410.2:p.Pro1003Ala