Canonical Allele Identifier: CA3749945

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356381
• ClinVar RCV Id: RCV000292764 ; RCV000332746 ; RCV000374418 ; RCV000338427 ; RCV001850898
• dbSNP Id: rs766589324
• ExAC: 6:33132163 C / T
• gnomAD v2: 6-33132163-C-T
• gnomAD v3: 6-33164386-C-T
• gnomAD v4: 6-33164386-C-T
• MyVariant Identifiers: chr6:g.33132163C>T (hg19) ; chr6:g.33164386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164386C>T , CM000668.2:g.33164386C>T	GRCh38
NC_000006.11:g.33132163C>T , CM000668.1:g.33132163C>T	GRCh37
NC_000006.10:g.33240141C>T	NCBI36
NG_011589.1:g.33083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.757G>A
ENST00000341947.7:c.4951G>A MANE Select	ENSP00000339915.2:p.Val1651Ile
ENST00000341947.6:c.4951G>A	ENSP00000339915.2:p.Val1651Ile
ENST00000361917.5:c.4630G>A	ENSP00000355123.1:p.Val1544Ile
ENST00000374708.8:c.4693G>A	ENSP00000363840.4:p.Val1565Ile
ENST00000477772.1:n.741G>A
NM_080679.2:c.4630G>A	NP_542410.2:p.Val1544Ile
NM_080680.2:c.4951G>A	NP_542411.2:p.Val1651Ile
NM_080681.2:c.4693G>A	NP_542412.2:p.Val1565Ile
XM_011514298.1:c.4105G>A	XP_011512600.1:p.Val1369Ile
XM_011514299.1:c.4237G>A	XP_011512601.1:p.Val1413Ile
XM_011514300.1:c.4057G>A	XP_011512602.1:p.Val1353Ile
XM_011514301.1:c.3994G>A	XP_011512603.1:p.Val1332Ile
XM_011514302.1:c.3838G>A	XP_011512604.1:p.Val1280Ile
XM_011514299.2:c.4237G>A	XP_011512601.1:p.Val1413Ile
XM_011514300.2:c.4057G>A	XP_011512602.1:p.Val1353Ile
XM_011514302.2:c.3838G>A	XP_011512604.1:p.Val1280Ile
XM_017010250.1:c.4951G>A	XP_016865739.1:p.Val1651Ile
XM_017010251.2:c.3769G>A	XP_016865740.1:p.Val1257Ile
NM_080680.3:c.4951G>A MANE Select	NP_542411.2:p.Val1651Ile
NM_080681.3:c.4693G>A	NP_542412.2:p.Val1565Ile
NM_080679.3:c.4630G>A	NP_542410.2:p.Val1544Ile