Canonical Allele Identifier: CA10623668

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356410
• ClinVar RCV Id: RCV000311772 ; RCV000351556 ; RCV000366488 ; RCV000398590
• dbSNP Id: rs886061318
• gnomAD v4: 6-33185747-G-T
• MyVariant Identifiers: chr6:g.33153524G>T (hg19) ; chr6:g.33185747G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185747G>T , CM000668.2:g.33185747G>T	GRCh38
NC_000006.11:g.33153524G>T , CM000668.1:g.33153524G>T	GRCh37
NC_000006.10:g.33261502G>T	NCBI36
NG_011589.1:g.11722C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.647C>A
ENST00000341947.7:c.830C>A MANE Select	ENSP00000339915.2:p.Pro277His
ENST00000341947.6:c.830C>A	ENSP00000339915.2:p.Pro277His
ENST00000361917.5:c.798+880C>A	ENSP00000355123.1:n.798+880C>A
ENST00000374708.8:c.799-693C>A	ENSP00000363840.4:n.799-693C>A
ENST00000457788.5:c.830C>A	ENSP00000405520.1:p.Pro277His
NM_080679.2:c.798+880C>A	NP_542410.2:n.798+880C>A
NM_080680.2:c.830C>A	NP_542411.2:p.Pro277His
NM_080681.2:c.799-693C>A	NP_542412.2:n.799-693C>A
XM_011514298.1:c.-17C>A	XP_011512600.1:n.-17C>A
XM_017010250.1:c.830C>A	XP_016865739.1:p.Pro277His
NM_080680.3:c.830C>A MANE Select	NP_542411.2:p.Pro277His
NM_080681.3:c.799-693C>A	NP_542412.2:n.799-693C>A
NM_080679.3:c.798+880C>A	NP_542410.2:n.798+880C>A