Canonical Allele Identifier: CA363609667

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185759-T-G
• MyVariant Identifiers: chr6:g.33153536T>G (hg19) ; chr6:g.33185759T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185759T>G , CM000668.2:g.33185759T>G	GRCh38
NC_000006.11:g.33153536T>G , CM000668.1:g.33153536T>G	GRCh37
NC_000006.10:g.33261514T>G	NCBI36
NG_011589.1:g.11710A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.635A>C
ENST00000341947.7:c.818A>C MANE Select	ENSP00000339915.2:p.Tyr273Ser
ENST00000341947.6:c.818A>C	ENSP00000339915.2:p.Tyr273Ser
ENST00000361917.5:c.798+868A>C	ENSP00000355123.1:n.798+868A>C
ENST00000374708.8:c.799-705A>C	ENSP00000363840.4:n.799-705A>C
ENST00000457788.5:c.818A>C	ENSP00000405520.1:p.Tyr273Ser
NM_080679.2:c.798+868A>C	NP_542410.2:n.798+868A>C
NM_080680.2:c.818A>C	NP_542411.2:p.Tyr273Ser
NM_080681.2:c.799-705A>C	NP_542412.2:n.799-705A>C
XM_011514298.1:c.-29A>C	XP_011512600.1:n.-29A>C
XM_017010250.1:c.818A>C	XP_016865739.1:p.Tyr273Ser
NM_080680.3:c.818A>C MANE Select	NP_542411.2:p.Tyr273Ser
NM_080681.3:c.799-705A>C	NP_542412.2:n.799-705A>C
NM_080679.3:c.798+868A>C	NP_542410.2:n.798+868A>C