Canonical Allele Identifier: CA363616326

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132170G>T (hg19) ; chr6:g.33164393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164393G>T , CM000668.2:g.33164393G>T	GRCh38
NC_000006.11:g.33132170G>T , CM000668.1:g.33132170G>T	GRCh37
NC_000006.10:g.33240148G>T	NCBI36
NG_011589.1:g.33076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.750C>A
ENST00000341947.7:c.4944C>A MANE Select	ENSP00000339915.2:p.His1648Gln
ENST00000341947.6:c.4944C>A	ENSP00000339915.2:p.His1648Gln
ENST00000361917.5:c.4623C>A	ENSP00000355123.1:p.His1541Gln
ENST00000374708.8:c.4686C>A	ENSP00000363840.4:p.His1562Gln
ENST00000477772.1:n.734C>A
NM_080679.2:c.4623C>A	NP_542410.2:p.His1541Gln
NM_080680.2:c.4944C>A	NP_542411.2:p.His1648Gln
NM_080681.2:c.4686C>A	NP_542412.2:p.His1562Gln
XM_011514298.1:c.4098C>A	XP_011512600.1:p.His1366Gln
XM_011514299.1:c.4230C>A	XP_011512601.1:p.His1410Gln
XM_011514300.1:c.4050C>A	XP_011512602.1:p.His1350Gln
XM_011514301.1:c.3987C>A	XP_011512603.1:p.His1329Gln
XM_011514302.1:c.3831C>A	XP_011512604.1:p.His1277Gln
XM_011514299.2:c.4230C>A	XP_011512601.1:p.His1410Gln
XM_011514300.2:c.4050C>A	XP_011512602.1:p.His1350Gln
XM_011514302.2:c.3831C>A	XP_011512604.1:p.His1277Gln
XM_017010250.1:c.4944C>A	XP_016865739.1:p.His1648Gln
XM_017010251.2:c.3762C>A	XP_016865740.1:p.His1254Gln
NM_080680.3:c.4944C>A MANE Select	NP_542411.2:p.His1648Gln
NM_080681.3:c.4686C>A	NP_542412.2:p.His1562Gln
NM_080679.3:c.4623C>A	NP_542410.2:p.His1541Gln