Canonical Allele Identifier: CA3749908

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 505075
• ClinVar RCV Id: RCV000615323 ; RCV001152082 ; RCV001152083 ; RCV001153346 ; RCV001662648
• dbSNP Id: rs781633250
• ExAC: 6:33131582 C / T
• gnomAD v2: 6-33131582-C-T
• gnomAD v3: 6-33163805-C-T
• gnomAD v4: 6-33163805-C-T
• MyVariant Identifiers: chr6:g.33131582C>T (hg19) ; chr6:g.33163805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33163805C>T , CM000668.2:g.33163805C>T	GRCh38
NC_000006.11:g.33131582C>T , CM000668.1:g.33131582C>T	GRCh37
NC_000006.10:g.33239560C>T	NCBI36
NG_011589.1:g.33664G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.890G>A
ENST00000341947.7:c.5084G>A MANE Select	ENSP00000339915.2:p.Arg1695Gln
ENST00000341947.6:c.5084G>A	ENSP00000339915.2:p.Arg1695Gln
ENST00000361917.5:c.4763G>A	ENSP00000355123.1:p.Arg1588Gln
ENST00000374708.8:c.4826G>A	ENSP00000363840.4:p.Arg1609Gln
ENST00000477772.1:n.874G>A
NM_080679.2:c.4763G>A	NP_542410.2:p.Arg1588Gln
NM_080680.2:c.5084G>A	NP_542411.2:p.Arg1695Gln
NM_080681.2:c.4826G>A	NP_542412.2:p.Arg1609Gln
XM_011514298.1:c.4238G>A	XP_011512600.1:p.Arg1413Gln
XM_011514299.1:c.4370G>A	XP_011512601.1:p.Arg1457Gln
XM_011514300.1:c.4190G>A	XP_011512602.1:p.Arg1397Gln
XM_011514301.1:c.4127G>A	XP_011512603.1:p.Arg1376Gln
XM_011514302.1:c.3971G>A	XP_011512604.1:p.Arg1324Gln
XM_011514299.2:c.4370G>A	XP_011512601.1:p.Arg1457Gln
XM_011514300.2:c.4190G>A	XP_011512602.1:p.Arg1397Gln
XM_011514302.2:c.3971G>A	XP_011512604.1:p.Arg1324Gln
XM_017010250.1:c.5084G>A	XP_016865739.1:p.Arg1695Gln
XM_017010251.2:c.3902G>A	XP_016865740.1:p.Arg1301Gln
NM_080680.3:c.5084G>A MANE Select	NP_542411.2:p.Arg1695Gln
NM_080681.3:c.4826G>A	NP_542412.2:p.Arg1609Gln
NM_080679.3:c.4763G>A	NP_542410.2:p.Arg1588Gln