Canonical Allele Identifier: CA363609666

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185758-A-T
• MyVariant Identifiers: chr6:g.33153535A>T (hg19) ; chr6:g.33185758A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185758A>T , CM000668.2:g.33185758A>T	GRCh38
NC_000006.11:g.33153535A>T , CM000668.1:g.33153535A>T	GRCh37
NC_000006.10:g.33261513A>T	NCBI36
NG_011589.1:g.11711T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.636T>A
ENST00000341947.7:c.819T>A MANE Select	ENSP00000339915.2:p.Tyr273Ter
ENST00000341947.6:c.819T>A	ENSP00000339915.2:p.Tyr273Ter
ENST00000361917.5:c.798+869T>A	ENSP00000355123.1:n.798+869T>A
ENST00000374708.8:c.799-704T>A	ENSP00000363840.4:n.799-704T>A
ENST00000457788.5:c.819T>A	ENSP00000405520.1:p.Tyr273Ter
NM_080679.2:c.798+869T>A	NP_542410.2:n.798+869T>A
NM_080680.2:c.819T>A	NP_542411.2:p.Tyr273Ter
NM_080681.2:c.799-704T>A	NP_542412.2:n.799-704T>A
XM_011514298.1:c.-28T>A	XP_011512600.1:n.-28T>A
XM_017010250.1:c.819T>A	XP_016865739.1:p.Tyr273Ter
NM_080680.3:c.819T>A MANE Select	NP_542411.2:p.Tyr273Ter
NM_080681.3:c.799-704T>A	NP_542412.2:n.799-704T>A
NM_080679.3:c.798+869T>A	NP_542410.2:n.798+869T>A