Canonical Allele Identifier: CA363615079

Gene: COL11A2

Linked Data

• dbSNP Id: rs1204576847
• gnomAD v2: 6-33160010-C-A
• gnomAD v4: 6-33192233-C-A
• MyVariant Identifiers: chr6:g.33160010C>A (hg19) ; chr6:g.33192233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192233C>A , CM000668.2:g.33192233C>A	GRCh38
NC_000006.11:g.33160010C>A , CM000668.1:g.33160010C>A	GRCh37
NC_000006.10:g.33267988C>A	NCBI36
NG_011589.1:g.5236G>T
NG_023374.1:g.13423G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.8G>T MANE Select	ENSP00000339915.2:p.Arg3Leu
ENST00000341947.6:c.8G>T	ENSP00000339915.2:p.Arg3Leu
ENST00000361917.5:c.8G>T	ENSP00000355123.1:p.Arg3Leu
ENST00000374708.8:c.8G>T	ENSP00000363840.4:p.Arg3Leu
ENST00000395194.1:c.8G>T	ENSP00000378620.1:p.Arg3Leu
ENST00000457788.5:c.8G>T	ENSP00000405520.1:p.Arg3Leu
NM_001163771.1:c.8G>T	NP_001157243.1:p.Arg3Leu
NM_080679.2:c.8G>T	NP_542410.2:p.Arg3Leu
NM_080680.2:c.8G>T	NP_542411.2:p.Arg3Leu
NM_080681.2:c.8G>T	NP_542412.2:p.Arg3Leu
XM_011514298.1:c.-765+792G>T	XP_011512600.1:n.-765+792G>T
XM_017010250.1:c.8G>T	XP_016865739.1:p.Arg3Leu
NM_001163771.2:c.8G>T	NP_001157243.1:p.Arg3Leu
NM_080680.3:c.8G>T MANE Select	NP_542411.2:p.Arg3Leu
NM_080681.3:c.8G>T	NP_542412.2:p.Arg3Leu
NM_080679.3:c.8G>T	NP_542410.2:p.Arg3Leu