Canonical Allele Identifier: CA449881436

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2130178
• ClinVar RCV Id: RCV003050372
• dbSNP Id: rs1770638548
• gnomAD v4: 6-33174545-A-G
• MyVariant Identifiers: chr6:g.33142322A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174545A>G , CM000668.2:g.33174545A>G	GRCh38
NC_000006.11:g.33142322A>G , CM000668.1:g.33142322A>G	GRCh37
NC_000006.10:g.33250300A>G	NCBI36
NG_011589.1:g.22924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.985T>C
ENST00000341947.7:c.2412T>C MANE Select	ENSP00000339915.2:p.Pro804=
ENST00000341947.6:c.2412T>C	ENSP00000339915.2:p.Pro804=
ENST00000361917.5:c.2091T>C	ENSP00000355123.1:p.Pro697=
ENST00000374708.8:c.2154T>C	ENSP00000363840.4:p.Pro718=
ENST00000477772.1:n.272+2464T>C
NM_080679.2:c.2091T>C	NP_542410.2:p.Pro697=
NM_080680.2:c.2412T>C	NP_542411.2:p.Pro804=
NM_080681.2:c.2154T>C	NP_542412.2:p.Pro718=
XM_011514298.1:c.1566T>C	XP_011512600.1:p.Pro522=
XM_011514299.1:c.1698T>C	XP_011512601.1:p.Pro566=
XM_011514300.1:c.1518T>C	XP_011512602.1:p.Pro506=
XM_011514301.1:c.1455T>C	XP_011512603.1:p.Pro485=
XM_011514302.1:c.1299T>C	XP_011512604.1:p.Pro433=
XM_011514299.2:c.1698T>C	XP_011512601.1:p.Pro566=
XM_011514300.2:c.1518T>C	XP_011512602.1:p.Pro506=
XM_011514302.2:c.1299T>C	XP_011512604.1:p.Pro433=
XM_017010250.1:c.2412T>C	XP_016865739.1:p.Pro804=
XM_017010251.2:c.1230T>C	XP_016865740.1:p.Pro410=
NM_080680.3:c.2412T>C MANE Select	NP_542411.2:p.Pro804=
NM_080681.3:c.2154T>C	NP_542412.2:p.Pro718=
NM_080679.3:c.2091T>C	NP_542410.2:p.Pro697=