Canonical Allele Identifier: CA3750397

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1301798
• ClinVar RCV Id: RCV001733747 ; RCV002077181
• dbSNP Id: rs558696162
• ExAC: 6:33137280 C / T
• gnomAD v2: 6-33137280-C-T
• gnomAD v3: 6-33169503-C-T
• gnomAD v4: 6-33169503-C-T
• MyVariant Identifiers: chr6:g.33137280C>T (hg19) ; chr6:g.33169503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169503C>T , CM000668.2:g.33169503C>T	GRCh38
NC_000006.11:g.33137280C>T , CM000668.1:g.33137280C>T	GRCh37
NC_000006.10:g.33245258C>T	NCBI36
NG_011589.1:g.27966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3691-13G>A MANE Select	ENSP00000339915.2:n.3691-13G>A
ENST00000341947.6:c.3691-13G>A	ENSP00000339915.2:n.3691-13G>A
ENST00000361917.5:c.3370-13G>A	ENSP00000355123.1:n.3370-13G>A
ENST00000374708.8:c.3433-13G>A	ENSP00000363840.4:n.3433-13G>A
ENST00000477772.1:n.273-3687G>A
NM_080679.2:c.3370-13G>A	NP_542410.2:n.3370-13G>A
NM_080680.2:c.3691-13G>A	NP_542411.2:n.3691-13G>A
NM_080681.2:c.3433-13G>A	NP_542412.2:n.3433-13G>A
XM_011514298.1:c.2845-13G>A	XP_011512600.1:n.2845-13G>A
XM_011514299.1:c.2977-13G>A	XP_011512601.1:n.2977-13G>A
XM_011514300.1:c.2797-13G>A	XP_011512602.1:n.2797-13G>A
XM_011514301.1:c.2734-13G>A	XP_011512603.1:n.2734-13G>A
XM_011514302.1:c.2578-13G>A	XP_011512604.1:n.2578-13G>A
XM_011514299.2:c.2977-13G>A	XP_011512601.1:n.2977-13G>A
XM_011514300.2:c.2797-13G>A	XP_011512602.1:n.2797-13G>A
XM_011514302.2:c.2578-13G>A	XP_011512604.1:n.2578-13G>A
XM_017010250.1:c.3691-13G>A	XP_016865739.1:n.3691-13G>A
XM_017010251.2:c.2509-13G>A	XP_016865740.1:n.2509-13G>A
NM_080680.3:c.3691-13G>A MANE Select	NP_542411.2:n.3691-13G>A
NM_080681.3:c.3433-13G>A	NP_542412.2:n.3433-13G>A
NM_080679.3:c.3370-13G>A	NP_542410.2:n.3370-13G>A