Canonical Allele Identifier: CA3749947

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1649670
• ClinVar RCV Id: RCV002144297
• dbSNP Id: rs755392165
• ExAC: 6:33132170 G / A
• gnomAD v2: 6-33132170-G-A
• gnomAD v3: 6-33164393-G-A
• gnomAD v4: 6-33164393-G-A
• COSMIC: COSM4401762
• MyVariant Identifiers: chr6:g.33132170G>A (hg19) ; chr6:g.33164393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164393G>A , CM000668.2:g.33164393G>A	GRCh38
NC_000006.11:g.33132170G>A , CM000668.1:g.33132170G>A	GRCh37
NC_000006.10:g.33240148G>A	NCBI36
NG_011589.1:g.33076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.750C>T
ENST00000341947.7:c.4944C>T MANE Select	ENSP00000339915.2:p.His1648=
ENST00000341947.6:c.4944C>T	ENSP00000339915.2:p.His1648=
ENST00000361917.5:c.4623C>T	ENSP00000355123.1:p.His1541=
ENST00000374708.8:c.4686C>T	ENSP00000363840.4:p.His1562=
ENST00000477772.1:n.734C>T
NM_080679.2:c.4623C>T	NP_542410.2:p.His1541=
NM_080680.2:c.4944C>T	NP_542411.2:p.His1648=
NM_080681.2:c.4686C>T	NP_542412.2:p.His1562=
XM_011514298.1:c.4098C>T	XP_011512600.1:p.His1366=
XM_011514299.1:c.4230C>T	XP_011512601.1:p.His1410=
XM_011514300.1:c.4050C>T	XP_011512602.1:p.His1350=
XM_011514301.1:c.3987C>T	XP_011512603.1:p.His1329=
XM_011514302.1:c.3831C>T	XP_011512604.1:p.His1277=
XM_011514299.2:c.4230C>T	XP_011512601.1:p.His1410=
XM_011514300.2:c.4050C>T	XP_011512602.1:p.His1350=
XM_011514302.2:c.3831C>T	XP_011512604.1:p.His1277=
XM_017010250.1:c.4944C>T	XP_016865739.1:p.His1648=
XM_017010251.2:c.3762C>T	XP_016865740.1:p.His1254=
NM_080680.3:c.4944C>T MANE Select	NP_542411.2:p.His1648=
NM_080681.3:c.4686C>T	NP_542412.2:p.His1562=
NM_080679.3:c.4623C>T	NP_542410.2:p.His1541=