Canonical Allele Identifier: CA363617772

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164941-G-T
• MyVariant Identifiers: chr6:g.33132718G>T (hg19) ; chr6:g.33164941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164941G>T , CM000668.2:g.33164941G>T	GRCh38
NC_000006.11:g.33132718G>T , CM000668.1:g.33132718G>T	GRCh37
NC_000006.10:g.33240696G>T	NCBI36
NG_011589.1:g.32528C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.580C>A
ENST00000341947.7:c.4774C>A MANE Select	ENSP00000339915.2:p.Gln1592Lys
ENST00000341947.6:c.4774C>A	ENSP00000339915.2:p.Gln1592Lys
ENST00000361917.5:c.4453C>A	ENSP00000355123.1:p.Gln1485Lys
ENST00000374708.8:c.4516C>A	ENSP00000363840.4:p.Gln1506Lys
ENST00000477772.1:n.564C>A
NM_080679.2:c.4453C>A	NP_542410.2:p.Gln1485Lys
NM_080680.2:c.4774C>A	NP_542411.2:p.Gln1592Lys
NM_080681.2:c.4516C>A	NP_542412.2:p.Gln1506Lys
XM_011514298.1:c.3928C>A	XP_011512600.1:p.Gln1310Lys
XM_011514299.1:c.4060C>A	XP_011512601.1:p.Gln1354Lys
XM_011514300.1:c.3880C>A	XP_011512602.1:p.Gln1294Lys
XM_011514301.1:c.3817C>A	XP_011512603.1:p.Gln1273Lys
XM_011514302.1:c.3661C>A	XP_011512604.1:p.Gln1221Lys
XM_011514299.2:c.4060C>A	XP_011512601.1:p.Gln1354Lys
XM_011514300.2:c.3880C>A	XP_011512602.1:p.Gln1294Lys
XM_011514302.2:c.3661C>A	XP_011512604.1:p.Gln1221Lys
XM_017010250.1:c.4774C>A	XP_016865739.1:p.Gln1592Lys
XM_017010251.2:c.3592C>A	XP_016865740.1:p.Gln1198Lys
NM_080680.3:c.4774C>A MANE Select	NP_542411.2:p.Gln1592Lys
NM_080681.3:c.4516C>A	NP_542412.2:p.Gln1506Lys
NM_080679.3:c.4453C>A	NP_542410.2:p.Gln1485Lys