Canonical Allele Identifier: CA3750406

Gene: COL11A2

Linked Data

• dbSNP Id: rs201184514
• ExAC: 6:33137563 C / T
• gnomAD v2: 6-33137563-C-T
• gnomAD v3: 6-33169786-C-T
• gnomAD v4: 6-33169786-C-T
• COSMIC: COSN19769447
• MyVariant Identifiers: chr6:g.33137563C>T (hg19) ; chr6:g.33169786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169786C>T , CM000668.2:g.33169786C>T	GRCh38
NC_000006.11:g.33137563C>T , CM000668.1:g.33137563C>T	GRCh37
NC_000006.10:g.33245541C>T	NCBI36
NG_011589.1:g.27683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+45G>A MANE Select	ENSP00000339915.2:n.3690+45G>A
ENST00000341947.6:c.3690+45G>A	ENSP00000339915.2:n.3690+45G>A
ENST00000361917.5:c.3369+45G>A	ENSP00000355123.1:n.3369+45G>A
ENST00000374708.8:c.3432+45G>A	ENSP00000363840.4:n.3432+45G>A
ENST00000477772.1:n.273-3970G>A
NM_080679.2:c.3369+45G>A	NP_542410.2:n.3369+45G>A
NM_080680.2:c.3690+45G>A	NP_542411.2:n.3690+45G>A
NM_080681.2:c.3432+45G>A	NP_542412.2:n.3432+45G>A
XM_011514298.1:c.2844+45G>A	XP_011512600.1:n.2844+45G>A
XM_011514299.1:c.2976+45G>A	XP_011512601.1:n.2976+45G>A
XM_011514300.1:c.2796+45G>A	XP_011512602.1:n.2796+45G>A
XM_011514301.1:c.2733+45G>A	XP_011512603.1:n.2733+45G>A
XM_011514302.1:c.2577+45G>A	XP_011512604.1:n.2577+45G>A
XM_011514299.2:c.2976+45G>A	XP_011512601.1:n.2976+45G>A
XM_011514300.2:c.2796+45G>A	XP_011512602.1:n.2796+45G>A
XM_011514302.2:c.2577+45G>A	XP_011512604.1:n.2577+45G>A
XM_017010250.1:c.3690+45G>A	XP_016865739.1:n.3690+45G>A
XM_017010251.2:c.2508+45G>A	XP_016865740.1:n.2508+45G>A
NM_080680.3:c.3690+45G>A MANE Select	NP_542411.2:n.3690+45G>A
NM_080681.3:c.3432+45G>A	NP_542412.2:n.3432+45G>A
NM_080679.3:c.3369+45G>A	NP_542410.2:n.3369+45G>A