Canonical Allele Identifier: CA3751735

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 226533
• ClinVar RCV Id: RCV000214622 ; RCV000275901 ; RCV000333347 ; RCV000274718 ; RCV000385285 ; RCV001722140 ; RCV002277574 ; RCV003165522
• dbSNP Id: rs35765893
• ExAC: 6:33157099 G / T
• gnomAD v2: 6-33157099-G-T
• gnomAD v3: 6-33189322-G-T
• gnomAD v4: 6-33189322-G-T
• MyVariant Identifiers: chr6:g.33157099G>T (hg19) ; chr6:g.33189322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33189322G>T , CM000668.2:g.33189322G>T	GRCh38
NC_000006.11:g.33157099G>T , CM000668.1:g.33157099G>T	GRCh37
NC_000006.10:g.33265077G>T	NCBI36
NG_011589.1:g.8147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.47C>A
ENST00000341947.7:c.230C>A MANE Select	ENSP00000339915.2:p.Pro77Gln
ENST00000341947.6:c.230C>A	ENSP00000339915.2:p.Pro77Gln
ENST00000361917.5:c.230C>A	ENSP00000355123.1:p.Pro77Gln
ENST00000374708.8:c.230C>A	ENSP00000363840.4:p.Pro77Gln
ENST00000395194.1:c.230C>A	ENSP00000378620.1:p.Pro77Gln
ENST00000457788.5:c.230C>A	ENSP00000405520.1:p.Pro77Gln
NM_001163771.1:c.230C>A	NP_001157243.1:p.Pro77Gln
NM_080679.2:c.230C>A	NP_542410.2:p.Pro77Gln
NM_080680.2:c.230C>A	NP_542411.2:p.Pro77Gln
NM_080681.2:c.230C>A	NP_542412.2:p.Pro77Gln
XM_011514298.1:c.-617C>A	XP_011512600.1:n.-617C>A
XM_017010250.1:c.230C>A	XP_016865739.1:p.Pro77Gln
NM_001163771.2:c.230C>A	NP_001157243.1:p.Pro77Gln
NM_080680.3:c.230C>A MANE Select	NP_542411.2:p.Pro77Gln
NM_080681.3:c.230C>A	NP_542412.2:p.Pro77Gln
NM_080679.3:c.230C>A	NP_542410.2:p.Pro77Gln