Canonical Allele Identifier: CA363617400

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2067786
• ClinVar RCV Id: RCV002970649
• MyVariant Identifiers: chr6:g.33132638G>T (hg19) ; chr6:g.33164861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164861G>T , CM000668.2:g.33164861G>T	GRCh38
NC_000006.11:g.33132638G>T , CM000668.1:g.33132638G>T	GRCh37
NC_000006.10:g.33240616G>T	NCBI36
NG_011589.1:g.32608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.660C>A
ENST00000341947.7:c.4854C>A MANE Select	ENSP00000339915.2:p.Asp1618Glu
ENST00000341947.6:c.4854C>A	ENSP00000339915.2:p.Asp1618Glu
ENST00000361917.5:c.4533C>A	ENSP00000355123.1:p.Asp1511Glu
ENST00000374708.8:c.4596C>A	ENSP00000363840.4:p.Asp1532Glu
ENST00000477772.1:n.644C>A
NM_080679.2:c.4533C>A	NP_542410.2:p.Asp1511Glu
NM_080680.2:c.4854C>A	NP_542411.2:p.Asp1618Glu
NM_080681.2:c.4596C>A	NP_542412.2:p.Asp1532Glu
XM_011514298.1:c.4008C>A	XP_011512600.1:p.Asp1336Glu
XM_011514299.1:c.4140C>A	XP_011512601.1:p.Asp1380Glu
XM_011514300.1:c.3960C>A	XP_011512602.1:p.Asp1320Glu
XM_011514301.1:c.3897C>A	XP_011512603.1:p.Asp1299Glu
XM_011514302.1:c.3741C>A	XP_011512604.1:p.Asp1247Glu
XM_011514299.2:c.4140C>A	XP_011512601.1:p.Asp1380Glu
XM_011514300.2:c.3960C>A	XP_011512602.1:p.Asp1320Glu
XM_011514302.2:c.3741C>A	XP_011512604.1:p.Asp1247Glu
XM_017010250.1:c.4854C>A	XP_016865739.1:p.Asp1618Glu
XM_017010251.2:c.3672C>A	XP_016865740.1:p.Asp1224Glu
NM_080680.3:c.4854C>A MANE Select	NP_542411.2:p.Asp1618Glu
NM_080681.3:c.4596C>A	NP_542412.2:p.Asp1532Glu
NM_080679.3:c.4533C>A	NP_542410.2:p.Asp1511Glu