Canonical Allele Identifier: CA363616412

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1386535
• ClinVar RCV Id: RCV001905804
• dbSNP Id: rs2150511088
• gnomAD v4: 6-33164416-G-A
• COSMIC: COSM5484835
• MyVariant Identifiers: chr6:g.33132193G>A (hg19) ; chr6:g.33164416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164416G>A , CM000668.2:g.33164416G>A	GRCh38
NC_000006.11:g.33132193G>A , CM000668.1:g.33132193G>A	GRCh37
NC_000006.10:g.33240171G>A	NCBI36
NG_011589.1:g.33053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.727C>T
ENST00000341947.7:c.4921C>T MANE Select	ENSP00000339915.2:p.Arg1641Trp
ENST00000341947.6:c.4921C>T	ENSP00000339915.2:p.Arg1641Trp
ENST00000361917.5:c.4600C>T	ENSP00000355123.1:p.Arg1534Trp
ENST00000374708.8:c.4663C>T	ENSP00000363840.4:p.Arg1555Trp
ENST00000477772.1:n.711C>T
NM_080679.2:c.4600C>T	NP_542410.2:p.Arg1534Trp
NM_080680.2:c.4921C>T	NP_542411.2:p.Arg1641Trp
NM_080681.2:c.4663C>T	NP_542412.2:p.Arg1555Trp
XM_011514298.1:c.4075C>T	XP_011512600.1:p.Arg1359Trp
XM_011514299.1:c.4207C>T	XP_011512601.1:p.Arg1403Trp
XM_011514300.1:c.4027C>T	XP_011512602.1:p.Arg1343Trp
XM_011514301.1:c.3964C>T	XP_011512603.1:p.Arg1322Trp
XM_011514302.1:c.3808C>T	XP_011512604.1:p.Arg1270Trp
XM_011514299.2:c.4207C>T	XP_011512601.1:p.Arg1403Trp
XM_011514300.2:c.4027C>T	XP_011512602.1:p.Arg1343Trp
XM_011514302.2:c.3808C>T	XP_011512604.1:p.Arg1270Trp
XM_017010250.1:c.4921C>T	XP_016865739.1:p.Arg1641Trp
XM_017010251.2:c.3739C>T	XP_016865740.1:p.Arg1247Trp
NM_080680.3:c.4921C>T MANE Select	NP_542411.2:p.Arg1641Trp
NM_080681.3:c.4663C>T	NP_542412.2:p.Arg1555Trp
NM_080679.3:c.4600C>T	NP_542410.2:p.Arg1534Trp