Canonical Allele Identifier: CA363609653

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33153530T>G (hg19) ; chr6:g.33185753T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185753T>G , CM000668.2:g.33185753T>G	GRCh38
NC_000006.11:g.33153530T>G , CM000668.1:g.33153530T>G	GRCh37
NC_000006.10:g.33261508T>G	NCBI36
NG_011589.1:g.11716A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.641A>C
ENST00000341947.7:c.824A>C MANE Select	ENSP00000339915.2:p.Tyr275Ser
ENST00000341947.6:c.824A>C	ENSP00000339915.2:p.Tyr275Ser
ENST00000361917.5:c.798+874A>C	ENSP00000355123.1:n.798+874A>C
ENST00000374708.8:c.799-699A>C	ENSP00000363840.4:n.799-699A>C
ENST00000457788.5:c.824A>C	ENSP00000405520.1:p.Tyr275Ser
NM_080679.2:c.798+874A>C	NP_542410.2:n.798+874A>C
NM_080680.2:c.824A>C	NP_542411.2:p.Tyr275Ser
NM_080681.2:c.799-699A>C	NP_542412.2:n.799-699A>C
XM_011514298.1:c.-23A>C	XP_011512600.1:n.-23A>C
XM_017010250.1:c.824A>C	XP_016865739.1:p.Tyr275Ser
NM_080680.3:c.824A>C MANE Select	NP_542411.2:p.Tyr275Ser
NM_080681.3:c.799-699A>C	NP_542412.2:n.799-699A>C
NM_080679.3:c.798+874A>C	NP_542410.2:n.798+874A>C