Canonical Allele Identifier: CA363616082

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2003129
• ClinVar RCV Id: RCV002825115
• MyVariant Identifiers: chr6:g.33132123A>C (hg19) ; chr6:g.33164346A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164346A>C , CM000668.2:g.33164346A>C	GRCh38
NC_000006.11:g.33132123A>C , CM000668.1:g.33132123A>C	GRCh37
NC_000006.10:g.33240101A>C	NCBI36
NG_011589.1:g.33123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.797T>G
ENST00000341947.7:c.4991T>G MANE Select	ENSP00000339915.2:p.Leu1664Arg
ENST00000341947.6:c.4991T>G	ENSP00000339915.2:p.Leu1664Arg
ENST00000361917.5:c.4670T>G	ENSP00000355123.1:p.Leu1557Arg
ENST00000374708.8:c.4733T>G	ENSP00000363840.4:p.Leu1578Arg
ENST00000477772.1:n.781T>G
NM_080679.2:c.4670T>G	NP_542410.2:p.Leu1557Arg
NM_080680.2:c.4991T>G	NP_542411.2:p.Leu1664Arg
NM_080681.2:c.4733T>G	NP_542412.2:p.Leu1578Arg
XM_011514298.1:c.4145T>G	XP_011512600.1:p.Leu1382Arg
XM_011514299.1:c.4277T>G	XP_011512601.1:p.Leu1426Arg
XM_011514300.1:c.4097T>G	XP_011512602.1:p.Leu1366Arg
XM_011514301.1:c.4034T>G	XP_011512603.1:p.Leu1345Arg
XM_011514302.1:c.3878T>G	XP_011512604.1:p.Leu1293Arg
XM_011514299.2:c.4277T>G	XP_011512601.1:p.Leu1426Arg
XM_011514300.2:c.4097T>G	XP_011512602.1:p.Leu1366Arg
XM_011514302.2:c.3878T>G	XP_011512604.1:p.Leu1293Arg
XM_017010250.1:c.4991T>G	XP_016865739.1:p.Leu1664Arg
XM_017010251.2:c.3809T>G	XP_016865740.1:p.Leu1270Arg
NM_080680.3:c.4991T>G MANE Select	NP_542411.2:p.Leu1664Arg
NM_080681.3:c.4733T>G	NP_542412.2:p.Leu1578Arg
NM_080679.3:c.4670T>G	NP_542410.2:p.Leu1557Arg