Canonical Allele Identifier: CA182105

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 178321
• ClinVar RCV Id: RCV000155065 ; RCV000277747 ; RCV000271332 ; RCV000381519 ; RCV000427587 ; RCV000680464 ; RCV000326882 ; RCV001804866
• dbSNP Id: rs146555195
• ExAC: 6:33132114 C / T
• gnomAD v2: 6-33132114-C-T
• gnomAD v3: 6-33164337-C-T
• gnomAD v4: 6-33164337-C-T
• MyVariant Identifiers: chr6:g.33132114C>T (hg19) ; chr6:g.33164337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164337C>T , CM000668.2:g.33164337C>T	GRCh38
NC_000006.11:g.33132114C>T , CM000668.1:g.33132114C>T	GRCh37
NC_000006.10:g.33240092C>T	NCBI36
NG_011589.1:g.33132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.806G>A
ENST00000341947.7:c.5000G>A MANE Select	ENSP00000339915.2:p.Arg1667His
ENST00000341947.6:c.5000G>A	ENSP00000339915.2:p.Arg1667His
ENST00000361917.5:c.4679G>A	ENSP00000355123.1:p.Arg1560His
ENST00000374708.8:c.4742G>A	ENSP00000363840.4:p.Arg1581His
ENST00000477772.1:n.790G>A
NM_080679.2:c.4679G>A	NP_542410.2:p.Arg1560His
NM_080680.2:c.5000G>A	NP_542411.2:p.Arg1667His
NM_080681.2:c.4742G>A	NP_542412.2:p.Arg1581His
XM_011514298.1:c.4154G>A	XP_011512600.1:p.Arg1385His
XM_011514299.1:c.4286G>A	XP_011512601.1:p.Arg1429His
XM_011514300.1:c.4106G>A	XP_011512602.1:p.Arg1369His
XM_011514301.1:c.4043G>A	XP_011512603.1:p.Arg1348His
XM_011514302.1:c.3887G>A	XP_011512604.1:p.Arg1296His
XM_011514299.2:c.4286G>A	XP_011512601.1:p.Arg1429His
XM_011514300.2:c.4106G>A	XP_011512602.1:p.Arg1369His
XM_011514302.2:c.3887G>A	XP_011512604.1:p.Arg1296His
XM_017010250.1:c.5000G>A	XP_016865739.1:p.Arg1667His
XM_017010251.2:c.3818G>A	XP_016865740.1:p.Arg1273His
NM_080680.3:c.5000G>A MANE Select	NP_542411.2:p.Arg1667His
NM_080681.3:c.4742G>A	NP_542412.2:p.Arg1581His
NM_080679.3:c.4679G>A	NP_542410.2:p.Arg1560His