Canonical Allele Identifier: CA363617615

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164911-A-C
• MyVariant Identifiers: chr6:g.33132688A>C (hg19) ; chr6:g.33164911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164911A>C , CM000668.2:g.33164911A>C	GRCh38
NC_000006.11:g.33132688A>C , CM000668.1:g.33132688A>C	GRCh37
NC_000006.10:g.33240666A>C	NCBI36
NG_011589.1:g.32558T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.610T>G
ENST00000341947.7:c.4804T>G MANE Select	ENSP00000339915.2:p.Phe1602Val
ENST00000341947.6:c.4804T>G	ENSP00000339915.2:p.Phe1602Val
ENST00000361917.5:c.4483T>G	ENSP00000355123.1:p.Phe1495Val
ENST00000374708.8:c.4546T>G	ENSP00000363840.4:p.Phe1516Val
ENST00000477772.1:n.594T>G
NM_080679.2:c.4483T>G	NP_542410.2:p.Phe1495Val
NM_080680.2:c.4804T>G	NP_542411.2:p.Phe1602Val
NM_080681.2:c.4546T>G	NP_542412.2:p.Phe1516Val
XM_011514298.1:c.3958T>G	XP_011512600.1:p.Phe1320Val
XM_011514299.1:c.4090T>G	XP_011512601.1:p.Phe1364Val
XM_011514300.1:c.3910T>G	XP_011512602.1:p.Phe1304Val
XM_011514301.1:c.3847T>G	XP_011512603.1:p.Phe1283Val
XM_011514302.1:c.3691T>G	XP_011512604.1:p.Phe1231Val
XM_011514299.2:c.4090T>G	XP_011512601.1:p.Phe1364Val
XM_011514300.2:c.3910T>G	XP_011512602.1:p.Phe1304Val
XM_011514302.2:c.3691T>G	XP_011512604.1:p.Phe1231Val
XM_017010250.1:c.4804T>G	XP_016865739.1:p.Phe1602Val
XM_017010251.2:c.3622T>G	XP_016865740.1:p.Phe1208Val
NM_080680.3:c.4804T>G MANE Select	NP_542411.2:p.Phe1602Val
NM_080681.3:c.4546T>G	NP_542412.2:p.Phe1516Val
NM_080679.3:c.4483T>G	NP_542410.2:p.Phe1495Val