Canonical Allele Identifier: CA3749906

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 504742
• ClinVar RCV Id: RCV000610002 ; RCV001152079 ; RCV001152080 ; RCV001152081 ; RCV001527817
• dbSNP Id: rs142893093
• ExAC: 6:33131578 C / T
• gnomAD v2: 6-33131578-C-T
• gnomAD v3: 6-33163801-C-T
• gnomAD v4: 6-33163801-C-T
• MyVariant Identifiers: chr6:g.33131578C>T (hg19) ; chr6:g.33163801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33163801C>T , CM000668.2:g.33163801C>T	GRCh38
NC_000006.11:g.33131578C>T , CM000668.1:g.33131578C>T	GRCh37
NC_000006.10:g.33239556C>T	NCBI36
NG_011589.1:g.33668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.894G>A
ENST00000341947.7:c.5088G>A MANE Select	ENSP00000339915.2:p.Thr1696=
ENST00000341947.6:c.5088G>A	ENSP00000339915.2:p.Thr1696=
ENST00000361917.5:c.4767G>A	ENSP00000355123.1:p.Thr1589=
ENST00000374708.8:c.4830G>A	ENSP00000363840.4:p.Thr1610=
ENST00000477772.1:n.878G>A
NM_080679.2:c.4767G>A	NP_542410.2:p.Thr1589=
NM_080680.2:c.5088G>A	NP_542411.2:p.Thr1696=
NM_080681.2:c.4830G>A	NP_542412.2:p.Thr1610=
XM_011514298.1:c.4242G>A	XP_011512600.1:p.Thr1414=
XM_011514299.1:c.4374G>A	XP_011512601.1:p.Thr1458=
XM_011514300.1:c.4194G>A	XP_011512602.1:p.Thr1398=
XM_011514301.1:c.4131G>A	XP_011512603.1:p.Thr1377=
XM_011514302.1:c.3975G>A	XP_011512604.1:p.Thr1325=
XM_011514299.2:c.4374G>A	XP_011512601.1:p.Thr1458=
XM_011514300.2:c.4194G>A	XP_011512602.1:p.Thr1398=
XM_011514302.2:c.3975G>A	XP_011512604.1:p.Thr1325=
XM_017010250.1:c.5088G>A	XP_016865739.1:p.Thr1696=
XM_017010251.2:c.3906G>A	XP_016865740.1:p.Thr1302=
NM_080680.3:c.5088G>A MANE Select	NP_542411.2:p.Thr1696=
NM_080681.3:c.4830G>A	NP_542412.2:p.Thr1610=
NM_080679.3:c.4767G>A	NP_542410.2:p.Thr1589=