Canonical Allele Identifier: CA3749955

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1429413
• ClinVar RCV Id: RCV001938922
• dbSNP Id: rs776247728
• ExAC: 6:33132192 C / T
• gnomAD v2: 6-33132192-C-T
• gnomAD v3: 6-33164415-C-T
• gnomAD v4: 6-33164415-C-T
• MyVariant Identifiers: chr6:g.33132192C>T (hg19) ; chr6:g.33164415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164415C>T , CM000668.2:g.33164415C>T	GRCh38
NC_000006.11:g.33132192C>T , CM000668.1:g.33132192C>T	GRCh37
NC_000006.10:g.33240170C>T	NCBI36
NG_011589.1:g.33054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.728G>A
ENST00000341947.7:c.4922G>A MANE Select	ENSP00000339915.2:p.Arg1641Gln
ENST00000341947.6:c.4922G>A	ENSP00000339915.2:p.Arg1641Gln
ENST00000361917.5:c.4601G>A	ENSP00000355123.1:p.Arg1534Gln
ENST00000374708.8:c.4664G>A	ENSP00000363840.4:p.Arg1555Gln
ENST00000477772.1:n.712G>A
NM_080679.2:c.4601G>A	NP_542410.2:p.Arg1534Gln
NM_080680.2:c.4922G>A	NP_542411.2:p.Arg1641Gln
NM_080681.2:c.4664G>A	NP_542412.2:p.Arg1555Gln
XM_011514298.1:c.4076G>A	XP_011512600.1:p.Arg1359Gln
XM_011514299.1:c.4208G>A	XP_011512601.1:p.Arg1403Gln
XM_011514300.1:c.4028G>A	XP_011512602.1:p.Arg1343Gln
XM_011514301.1:c.3965G>A	XP_011512603.1:p.Arg1322Gln
XM_011514302.1:c.3809G>A	XP_011512604.1:p.Arg1270Gln
XM_011514299.2:c.4208G>A	XP_011512601.1:p.Arg1403Gln
XM_011514300.2:c.4028G>A	XP_011512602.1:p.Arg1343Gln
XM_011514302.2:c.3809G>A	XP_011512604.1:p.Arg1270Gln
XM_017010250.1:c.4922G>A	XP_016865739.1:p.Arg1641Gln
XM_017010251.2:c.3740G>A	XP_016865740.1:p.Arg1247Gln
NM_080680.3:c.4922G>A MANE Select	NP_542411.2:p.Arg1641Gln
NM_080681.3:c.4664G>A	NP_542412.2:p.Arg1555Gln
NM_080679.3:c.4601G>A	NP_542410.2:p.Arg1534Gln