Canonical Allele Identifier: CA363644237

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1430614
• ClinVar RCV Id: RCV001952483
• dbSNP Id: rs1770639119
• gnomAD v4: 6-33174549-T-C
• MyVariant Identifiers: chr6:g.33142326T>C (hg19) ; chr6:g.33174549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174549T>C , CM000668.2:g.33174549T>C	GRCh38
NC_000006.11:g.33142326T>C , CM000668.1:g.33142326T>C	GRCh37
NC_000006.10:g.33250304T>C	NCBI36
NG_011589.1:g.22920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.981A>G
ENST00000341947.7:c.2408A>G MANE Select	ENSP00000339915.2:p.Tyr803Cys
ENST00000341947.6:c.2408A>G	ENSP00000339915.2:p.Tyr803Cys
ENST00000361917.5:c.2087A>G	ENSP00000355123.1:p.Tyr696Cys
ENST00000374708.8:c.2150A>G	ENSP00000363840.4:p.Tyr717Cys
ENST00000477772.1:n.272+2460A>G
NM_080679.2:c.2087A>G	NP_542410.2:p.Tyr696Cys
NM_080680.2:c.2408A>G	NP_542411.2:p.Tyr803Cys
NM_080681.2:c.2150A>G	NP_542412.2:p.Tyr717Cys
XM_011514298.1:c.1562A>G	XP_011512600.1:p.Tyr521Cys
XM_011514299.1:c.1694A>G	XP_011512601.1:p.Tyr565Cys
XM_011514300.1:c.1514A>G	XP_011512602.1:p.Tyr505Cys
XM_011514301.1:c.1451A>G	XP_011512603.1:p.Tyr484Cys
XM_011514302.1:c.1295A>G	XP_011512604.1:p.Tyr432Cys
XM_011514299.2:c.1694A>G	XP_011512601.1:p.Tyr565Cys
XM_011514300.2:c.1514A>G	XP_011512602.1:p.Tyr505Cys
XM_011514302.2:c.1295A>G	XP_011512604.1:p.Tyr432Cys
XM_017010250.1:c.2408A>G	XP_016865739.1:p.Tyr803Cys
XM_017010251.2:c.1226A>G	XP_016865740.1:p.Tyr409Cys
NM_080680.3:c.2408A>G MANE Select	NP_542411.2:p.Tyr803Cys
NM_080681.3:c.2150A>G	NP_542412.2:p.Tyr717Cys
NM_080679.3:c.2087A>G	NP_542410.2:p.Tyr696Cys