Canonical Allele Identifier: CA363616329

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 506216
• ClinVar RCV Id: RCV000610034
• dbSNP Id: rs1487325262
• MyVariant Identifiers: chr6:g.33132171T>A (hg19) ; chr6:g.33164394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164394T>A , CM000668.2:g.33164394T>A	GRCh38
NC_000006.11:g.33132171T>A , CM000668.1:g.33132171T>A	GRCh37
NC_000006.10:g.33240149T>A	NCBI36
NG_011589.1:g.33075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.749A>T
ENST00000341947.7:c.4943A>T MANE Select	ENSP00000339915.2:p.His1648Leu
ENST00000341947.6:c.4943A>T	ENSP00000339915.2:p.His1648Leu
ENST00000361917.5:c.4622A>T	ENSP00000355123.1:p.His1541Leu
ENST00000374708.8:c.4685A>T	ENSP00000363840.4:p.His1562Leu
ENST00000477772.1:n.733A>T
NM_080679.2:c.4622A>T	NP_542410.2:p.His1541Leu
NM_080680.2:c.4943A>T	NP_542411.2:p.His1648Leu
NM_080681.2:c.4685A>T	NP_542412.2:p.His1562Leu
XM_011514298.1:c.4097A>T	XP_011512600.1:p.His1366Leu
XM_011514299.1:c.4229A>T	XP_011512601.1:p.His1410Leu
XM_011514300.1:c.4049A>T	XP_011512602.1:p.His1350Leu
XM_011514301.1:c.3986A>T	XP_011512603.1:p.His1329Leu
XM_011514302.1:c.3830A>T	XP_011512604.1:p.His1277Leu
XM_011514299.2:c.4229A>T	XP_011512601.1:p.His1410Leu
XM_011514300.2:c.4049A>T	XP_011512602.1:p.His1350Leu
XM_011514302.2:c.3830A>T	XP_011512604.1:p.His1277Leu
XM_017010250.1:c.4943A>T	XP_016865739.1:p.His1648Leu
XM_017010251.2:c.3761A>T	XP_016865740.1:p.His1254Leu
NM_080680.3:c.4943A>T MANE Select	NP_542411.2:p.His1648Leu
NM_080681.3:c.4685A>T	NP_542412.2:p.His1562Leu
NM_080679.3:c.4622A>T	NP_542410.2:p.His1541Leu