Canonical Allele Identifier: CA363616500

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164431-G-T
• MyVariant Identifiers: chr6:g.33132208G>T (hg19) ; chr6:g.33164431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164431G>T , CM000668.2:g.33164431G>T	GRCh38
NC_000006.11:g.33132208G>T , CM000668.1:g.33132208G>T	GRCh37
NC_000006.10:g.33240186G>T	NCBI36
NG_011589.1:g.33038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.712C>A
ENST00000341947.7:c.4906C>A MANE Select	ENSP00000339915.2:p.Gln1636Lys
ENST00000341947.6:c.4906C>A	ENSP00000339915.2:p.Gln1636Lys
ENST00000361917.5:c.4585C>A	ENSP00000355123.1:p.Gln1529Lys
ENST00000374708.8:c.4648C>A	ENSP00000363840.4:p.Gln1550Lys
ENST00000477772.1:n.696C>A
NM_080679.2:c.4585C>A	NP_542410.2:p.Gln1529Lys
NM_080680.2:c.4906C>A	NP_542411.2:p.Gln1636Lys
NM_080681.2:c.4648C>A	NP_542412.2:p.Gln1550Lys
XM_011514298.1:c.4060C>A	XP_011512600.1:p.Gln1354Lys
XM_011514299.1:c.4192C>A	XP_011512601.1:p.Gln1398Lys
XM_011514300.1:c.4012C>A	XP_011512602.1:p.Gln1338Lys
XM_011514301.1:c.3949C>A	XP_011512603.1:p.Gln1317Lys
XM_011514302.1:c.3793C>A	XP_011512604.1:p.Gln1265Lys
XM_011514299.2:c.4192C>A	XP_011512601.1:p.Gln1398Lys
XM_011514300.2:c.4012C>A	XP_011512602.1:p.Gln1338Lys
XM_011514302.2:c.3793C>A	XP_011512604.1:p.Gln1265Lys
XM_017010250.1:c.4906C>A	XP_016865739.1:p.Gln1636Lys
XM_017010251.2:c.3724C>A	XP_016865740.1:p.Gln1242Lys
NM_080680.3:c.4906C>A MANE Select	NP_542411.2:p.Gln1636Lys
NM_080681.3:c.4648C>A	NP_542412.2:p.Gln1550Lys
NM_080679.3:c.4585C>A	NP_542410.2:p.Gln1529Lys