Canonical Allele Identifier: CA3750394

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1031066
• ClinVar RCV Id: RCV001332797 ; RCV001751648
• dbSNP Id: rs780613380
• ExAC: 6:33137261 G / A
• gnomAD v2: 6-33137261-G-A
• gnomAD v3: 6-33169484-G-A
• gnomAD v4: 6-33169484-G-A
• MyVariant Identifiers: chr6:g.33137261G>A (hg19) ; chr6:g.33169484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169484G>A , CM000668.2:g.33169484G>A	GRCh38
NC_000006.11:g.33137261G>A , CM000668.1:g.33137261G>A	GRCh37
NC_000006.10:g.33245239G>A	NCBI36
NG_011589.1:g.27985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3697C>T MANE Select	ENSP00000339915.2:p.Arg1233Cys
ENST00000341947.6:c.3697C>T	ENSP00000339915.2:p.Arg1233Cys
ENST00000361917.5:c.3376C>T	ENSP00000355123.1:p.Arg1126Cys
ENST00000374708.8:c.3439C>T	ENSP00000363840.4:p.Arg1147Cys
ENST00000477772.1:n.273-3668C>T
NM_080679.2:c.3376C>T	NP_542410.2:p.Arg1126Cys
NM_080680.2:c.3697C>T	NP_542411.2:p.Arg1233Cys
NM_080681.2:c.3439C>T	NP_542412.2:p.Arg1147Cys
XM_011514298.1:c.2851C>T	XP_011512600.1:p.Arg951Cys
XM_011514299.1:c.2983C>T	XP_011512601.1:p.Arg995Cys
XM_011514300.1:c.2803C>T	XP_011512602.1:p.Arg935Cys
XM_011514301.1:c.2740C>T	XP_011512603.1:p.Arg914Cys
XM_011514302.1:c.2584C>T	XP_011512604.1:p.Arg862Cys
XM_011514299.2:c.2983C>T	XP_011512601.1:p.Arg995Cys
XM_011514300.2:c.2803C>T	XP_011512602.1:p.Arg935Cys
XM_011514302.2:c.2584C>T	XP_011512604.1:p.Arg862Cys
XM_017010250.1:c.3697C>T	XP_016865739.1:p.Arg1233Cys
XM_017010251.2:c.2515C>T	XP_016865740.1:p.Arg839Cys
NM_080680.3:c.3697C>T MANE Select	NP_542411.2:p.Arg1233Cys
NM_080681.3:c.3439C>T	NP_542412.2:p.Arg1147Cys
NM_080679.3:c.3376C>T	NP_542410.2:p.Arg1126Cys