Canonical Allele Identifier: CA137068933

Gene: COL11A2

Linked Data

• dbSNP Id: rs1016810908
• gnomAD v4: 6-33174360-C-T
• MyVariant Identifiers: chr6:g.33142137C>T (hg19) ; chr6:g.33174360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174360C>T , CM000668.2:g.33174360C>T	GRCh38
NC_000006.11:g.33142137C>T , CM000668.1:g.33142137C>T	GRCh37
NC_000006.10:g.33250115C>T	NCBI36
NG_011589.1:g.23109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1004-142G>A
ENST00000341947.7:c.2431-142G>A MANE Select	ENSP00000339915.2:n.2431-142G>A
ENST00000341947.6:c.2431-142G>A	ENSP00000339915.2:n.2431-142G>A
ENST00000361917.5:c.2110-142G>A	ENSP00000355123.1:n.2110-142G>A
ENST00000374708.8:c.2173-142G>A	ENSP00000363840.4:n.2173-142G>A
ENST00000477772.1:n.272+2649G>A
NM_080679.2:c.2110-142G>A	NP_542410.2:n.2110-142G>A
NM_080680.2:c.2431-142G>A	NP_542411.2:n.2431-142G>A
NM_080681.2:c.2173-142G>A	NP_542412.2:n.2173-142G>A
XM_011514298.1:c.1585-142G>A	XP_011512600.1:n.1585-142G>A
XM_011514299.1:c.1717-142G>A	XP_011512601.1:n.1717-142G>A
XM_011514300.1:c.1537-142G>A	XP_011512602.1:n.1537-142G>A
XM_011514301.1:c.1474-142G>A	XP_011512603.1:n.1474-142G>A
XM_011514302.1:c.1318-142G>A	XP_011512604.1:n.1318-142G>A
XM_011514299.2:c.1717-142G>A	XP_011512601.1:n.1717-142G>A
XM_011514300.2:c.1537-142G>A	XP_011512602.1:n.1537-142G>A
XM_011514302.2:c.1318-142G>A	XP_011512604.1:n.1318-142G>A
XM_017010250.1:c.2431-142G>A	XP_016865739.1:n.2431-142G>A
XM_017010251.2:c.1249-142G>A	XP_016865740.1:n.1249-142G>A
NM_080680.3:c.2431-142G>A MANE Select	NP_542411.2:n.2431-142G>A
NM_080681.3:c.2173-142G>A	NP_542412.2:n.2173-142G>A
NM_080679.3:c.2110-142G>A	NP_542410.2:n.2110-142G>A