Canonical Allele Identifier: CA3751773

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356412
• ClinVar RCV Id: RCV002461106 ; RCV003387834
• dbSNP Id: rs568840295
• ExAC: 6:33160013 T / C
• gnomAD v2: 6-33160013-T-C
• gnomAD v3: 6-33192236-T-C
• gnomAD v4: 6-33192236-T-C
• MyVariant Identifiers: chr6:g.33160013T>C (hg19) ; chr6:g.33192236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192236T>C , CM000668.2:g.33192236T>C	GRCh38
NC_000006.11:g.33160013T>C , CM000668.1:g.33160013T>C	GRCh37
NC_000006.10:g.33267991T>C	NCBI36
NG_011589.1:g.5233A>G
NG_023374.1:g.13420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.5A>G MANE Select	ENSP00000339915.2:p.Glu2Gly
ENST00000341947.6:c.5A>G	ENSP00000339915.2:p.Glu2Gly
ENST00000361917.5:c.5A>G	ENSP00000355123.1:p.Glu2Gly
ENST00000374708.8:c.5A>G	ENSP00000363840.4:p.Glu2Gly
ENST00000395194.1:c.5A>G	ENSP00000378620.1:p.Glu2Gly
ENST00000457788.5:c.5A>G	ENSP00000405520.1:p.Glu2Gly
NM_001163771.1:c.5A>G	NP_001157243.1:p.Glu2Gly
NM_080679.2:c.5A>G	NP_542410.2:p.Glu2Gly
NM_080680.2:c.5A>G	NP_542411.2:p.Glu2Gly
NM_080681.2:c.5A>G	NP_542412.2:p.Glu2Gly
XM_011514298.1:c.-765+789A>G	XP_011512600.1:n.-765+789A>G
XM_017010250.1:c.5A>G	XP_016865739.1:p.Glu2Gly
NM_001163771.2:c.5A>G	NP_001157243.1:p.Glu2Gly
NM_080680.3:c.5A>G MANE Select	NP_542411.2:p.Glu2Gly
NM_080681.3:c.5A>G	NP_542412.2:p.Glu2Gly
NM_080679.3:c.5A>G	NP_542410.2:p.Glu2Gly