Canonical Allele Identifier: CA363644474

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33174574-G-C
• MyVariant Identifiers: chr6:g.33142351G>C (hg19) ; chr6:g.33174574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174574G>C , CM000668.2:g.33174574G>C	GRCh38
NC_000006.11:g.33142351G>C , CM000668.1:g.33142351G>C	GRCh37
NC_000006.10:g.33250329G>C	NCBI36
NG_011589.1:g.22895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.956C>G
ENST00000341947.7:c.2383C>G MANE Select	ENSP00000339915.2:p.Leu795Val
ENST00000341947.6:c.2383C>G	ENSP00000339915.2:p.Leu795Val
ENST00000361917.5:c.2062C>G	ENSP00000355123.1:p.Leu688Val
ENST00000374708.8:c.2125C>G	ENSP00000363840.4:p.Leu709Val
ENST00000477772.1:n.272+2435C>G
NM_080679.2:c.2062C>G	NP_542410.2:p.Leu688Val
NM_080680.2:c.2383C>G	NP_542411.2:p.Leu795Val
NM_080681.2:c.2125C>G	NP_542412.2:p.Leu709Val
XM_011514298.1:c.1537C>G	XP_011512600.1:p.Leu513Val
XM_011514299.1:c.1669C>G	XP_011512601.1:p.Leu557Val
XM_011514300.1:c.1489C>G	XP_011512602.1:p.Leu497Val
XM_011514301.1:c.1426C>G	XP_011512603.1:p.Leu476Val
XM_011514302.1:c.1270C>G	XP_011512604.1:p.Leu424Val
XM_011514299.2:c.1669C>G	XP_011512601.1:p.Leu557Val
XM_011514300.2:c.1489C>G	XP_011512602.1:p.Leu497Val
XM_011514302.2:c.1270C>G	XP_011512604.1:p.Leu424Val
XM_017010250.1:c.2383C>G	XP_016865739.1:p.Leu795Val
XM_017010251.2:c.1201C>G	XP_016865740.1:p.Leu401Val
NM_080680.3:c.2383C>G MANE Select	NP_542411.2:p.Leu795Val
NM_080681.3:c.2125C>G	NP_542412.2:p.Leu709Val
NM_080679.3:c.2062C>G	NP_542410.2:p.Leu688Val