Canonical Allele Identifier: CA10626490

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356403
• ClinVar RCV Id: RCV000291438 ; RCV000344875 ; RCV000393564 ; RCV000400742
• dbSNP Id: rs757431548
• MyVariant Identifiers: chr6:g.33144785C>G (hg19) ; chr6:g.33177008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33177008C>G , CM000668.2:g.33177008C>G	GRCh38
NC_000006.11:g.33144785C>G , CM000668.1:g.33144785C>G	GRCh37
NC_000006.10:g.33252763C>G	NCBI36
NG_011589.1:g.20461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.627G>C
ENST00000341947.7:c.2054G>C MANE Select	ENSP00000339915.2:p.Gly685Ala
ENST00000341947.6:c.2054G>C	ENSP00000339915.2:p.Gly685Ala
ENST00000361917.5:c.1733G>C	ENSP00000355123.1:p.Gly578Ala
ENST00000374708.8:c.1796G>C	ENSP00000363840.4:p.Gly599Ala
ENST00000477772.1:n.272+1G>C
NM_080679.2:c.1733G>C	NP_542410.2:p.Gly578Ala
NM_080680.2:c.2054G>C	NP_542411.2:p.Gly685Ala
NM_080681.2:c.1796G>C	NP_542412.2:p.Gly599Ala
XM_011514298.1:c.1208G>C	XP_011512600.1:p.Gly403Ala
XM_011514299.1:c.1340G>C	XP_011512601.1:p.Gly447Ala
XM_011514300.1:c.1160G>C	XP_011512602.1:p.Gly387Ala
XM_011514301.1:c.1097G>C	XP_011512603.1:p.Gly366Ala
XM_011514302.1:c.941G>C	XP_011512604.1:p.Gly314Ala
XM_011514299.2:c.1340G>C	XP_011512601.1:p.Gly447Ala
XM_011514300.2:c.1160G>C	XP_011512602.1:p.Gly387Ala
XM_011514302.2:c.941G>C	XP_011512604.1:p.Gly314Ala
XM_017010250.1:c.2054G>C	XP_016865739.1:p.Gly685Ala
XM_017010251.2:c.872G>C	XP_016865740.1:p.Gly291Ala
NM_080680.3:c.2054G>C MANE Select	NP_542411.2:p.Gly685Ala
NM_080681.3:c.1796G>C	NP_542412.2:p.Gly599Ala
NM_080679.3:c.1733G>C	NP_542410.2:p.Gly578Ala