Canonical Allele Identifier: CA363616445

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132199A>G (hg19) ; chr6:g.33164422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164422A>G , CM000668.2:g.33164422A>G	GRCh38
NC_000006.11:g.33132199A>G , CM000668.1:g.33132199A>G	GRCh37
NC_000006.10:g.33240177A>G	NCBI36
NG_011589.1:g.33047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.721T>C
ENST00000341947.7:c.4915T>C MANE Select	ENSP00000339915.2:p.Phe1639Leu
ENST00000341947.6:c.4915T>C	ENSP00000339915.2:p.Phe1639Leu
ENST00000361917.5:c.4594T>C	ENSP00000355123.1:p.Phe1532Leu
ENST00000374708.8:c.4657T>C	ENSP00000363840.4:p.Phe1553Leu
ENST00000477772.1:n.705T>C
NM_080679.2:c.4594T>C	NP_542410.2:p.Phe1532Leu
NM_080680.2:c.4915T>C	NP_542411.2:p.Phe1639Leu
NM_080681.2:c.4657T>C	NP_542412.2:p.Phe1553Leu
XM_011514298.1:c.4069T>C	XP_011512600.1:p.Phe1357Leu
XM_011514299.1:c.4201T>C	XP_011512601.1:p.Phe1401Leu
XM_011514300.1:c.4021T>C	XP_011512602.1:p.Phe1341Leu
XM_011514301.1:c.3958T>C	XP_011512603.1:p.Phe1320Leu
XM_011514302.1:c.3802T>C	XP_011512604.1:p.Phe1268Leu
XM_011514299.2:c.4201T>C	XP_011512601.1:p.Phe1401Leu
XM_011514300.2:c.4021T>C	XP_011512602.1:p.Phe1341Leu
XM_011514302.2:c.3802T>C	XP_011512604.1:p.Phe1268Leu
XM_017010250.1:c.4915T>C	XP_016865739.1:p.Phe1639Leu
XM_017010251.2:c.3733T>C	XP_016865740.1:p.Phe1245Leu
NM_080680.3:c.4915T>C MANE Select	NP_542411.2:p.Phe1639Leu
NM_080681.3:c.4657T>C	NP_542412.2:p.Phe1553Leu
NM_080679.3:c.4594T>C	NP_542410.2:p.Phe1532Leu