Canonical Allele Identifier: CA3749942

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2885354
• ClinVar RCV Id: RCV003717216
• dbSNP Id: rs546841812
• ExAC: 6:33132136 G / A
• gnomAD v2: 6-33132136-G-A
• gnomAD v3: 6-33164359-G-A
• gnomAD v4: 6-33164359-G-A
• MyVariant Identifiers: chr6:g.33132136G>A (hg19) ; chr6:g.33164359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164359G>A , CM000668.2:g.33164359G>A	GRCh38
NC_000006.11:g.33132136G>A , CM000668.1:g.33132136G>A	GRCh37
NC_000006.10:g.33240114G>A	NCBI36
NG_011589.1:g.33110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.784C>T
ENST00000341947.7:c.4978C>T MANE Select	ENSP00000339915.2:p.Arg1660Cys
ENST00000341947.6:c.4978C>T	ENSP00000339915.2:p.Arg1660Cys
ENST00000361917.5:c.4657C>T	ENSP00000355123.1:p.Arg1553Cys
ENST00000374708.8:c.4720C>T	ENSP00000363840.4:p.Arg1574Cys
ENST00000477772.1:n.768C>T
NM_080679.2:c.4657C>T	NP_542410.2:p.Arg1553Cys
NM_080680.2:c.4978C>T	NP_542411.2:p.Arg1660Cys
NM_080681.2:c.4720C>T	NP_542412.2:p.Arg1574Cys
XM_011514298.1:c.4132C>T	XP_011512600.1:p.Arg1378Cys
XM_011514299.1:c.4264C>T	XP_011512601.1:p.Arg1422Cys
XM_011514300.1:c.4084C>T	XP_011512602.1:p.Arg1362Cys
XM_011514301.1:c.4021C>T	XP_011512603.1:p.Arg1341Cys
XM_011514302.1:c.3865C>T	XP_011512604.1:p.Arg1289Cys
XM_011514299.2:c.4264C>T	XP_011512601.1:p.Arg1422Cys
XM_011514300.2:c.4084C>T	XP_011512602.1:p.Arg1362Cys
XM_011514302.2:c.3865C>T	XP_011512604.1:p.Arg1289Cys
XM_017010250.1:c.4978C>T	XP_016865739.1:p.Arg1660Cys
XM_017010251.2:c.3796C>T	XP_016865740.1:p.Arg1266Cys
NM_080680.3:c.4978C>T MANE Select	NP_542411.2:p.Arg1660Cys
NM_080681.3:c.4720C>T	NP_542412.2:p.Arg1574Cys
NM_080679.3:c.4657C>T	NP_542410.2:p.Arg1553Cys