Canonical Allele Identifier: CA449845717

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2875786
• ClinVar RCV Id: RCV003707420
• MyVariant Identifiers: chr6:g.33154526G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33186749G>A , CM000668.2:g.33186749G>A	GRCh38
NC_000006.11:g.33154526G>A , CM000668.1:g.33154526G>A	GRCh37
NC_000006.10:g.33262504G>A	NCBI36
NG_011589.1:g.10720C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.493C>T
ENST00000341947.7:c.676C>T MANE Select	ENSP00000339915.2:p.Leu226=
ENST00000341947.6:c.676C>T	ENSP00000339915.2:p.Leu226=
ENST00000361917.5:c.676C>T	ENSP00000355123.1:p.Leu226=
ENST00000374708.8:c.676C>T	ENSP00000363840.4:p.Leu226=
ENST00000395194.1:c.676C>T	ENSP00000378620.1:p.Leu226=
ENST00000457788.5:c.676C>T	ENSP00000405520.1:p.Leu226=
NM_001163771.1:c.676C>T	NP_001157243.1:p.Leu226=
NM_080679.2:c.676C>T	NP_542410.2:p.Leu226=
NM_080680.2:c.676C>T	NP_542411.2:p.Leu226=
NM_080681.2:c.676C>T	NP_542412.2:p.Leu226=
XM_011514298.1:c.-171C>T	XP_011512600.1:n.-171C>T
XM_017010250.1:c.676C>T	XP_016865739.1:p.Leu226=
NM_001163771.2:c.676C>T	NP_001157243.1:p.Leu226=
NM_080680.3:c.676C>T MANE Select	NP_542411.2:p.Leu226=
NM_080681.3:c.676C>T	NP_542412.2:p.Leu226=
NM_080679.3:c.676C>T	NP_542410.2:p.Leu226=