Canonical Allele Identifier: CA3751640

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 439497
• ClinVar RCV Id: RCV000730165
• dbSNP Id: rs142462583
• ExAC: 6:33156206 C / T
• gnomAD v2: 6-33156206-C-T
• gnomAD v3: 6-33188429-C-T
• gnomAD v4: 6-33188429-C-T
• MyVariant Identifiers: chr6:g.33156206C>T (hg19) ; chr6:g.33188429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33188429C>T , CM000668.2:g.33188429C>T	GRCh38
NC_000006.11:g.33156206C>T , CM000668.1:g.33156206C>T	GRCh37
NC_000006.10:g.33264184C>T	NCBI36
NG_011589.1:g.9040G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.356G>A
ENST00000341947.7:c.539G>A MANE Select	ENSP00000339915.2:p.Arg180His
ENST00000341947.6:c.539G>A	ENSP00000339915.2:p.Arg180His
ENST00000361917.5:c.539G>A	ENSP00000355123.1:p.Arg180His
ENST00000374708.8:c.539G>A	ENSP00000363840.4:p.Arg180His
ENST00000395194.1:c.539G>A	ENSP00000378620.1:p.Arg180His
ENST00000457788.5:c.539G>A	ENSP00000405520.1:p.Arg180His
NM_001163771.1:c.539G>A	NP_001157243.1:p.Arg180His
NM_080679.2:c.539G>A	NP_542410.2:p.Arg180His
NM_080680.2:c.539G>A	NP_542411.2:p.Arg180His
NM_080681.2:c.539G>A	NP_542412.2:p.Arg180His
XM_011514298.1:c.-308G>A	XP_011512600.1:n.-308G>A
XM_017010250.1:c.539G>A	XP_016865739.1:p.Arg180His
NM_001163771.2:c.539G>A	NP_001157243.1:p.Arg180His
NM_080680.3:c.539G>A MANE Select	NP_542411.2:p.Arg180His
NM_080681.3:c.539G>A	NP_542412.2:p.Arg180His
NM_080679.3:c.539G>A	NP_542410.2:p.Arg180His