Canonical Allele Identifier: CA363616375

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132184T>G (hg19) ; chr6:g.33164407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164407T>G , CM000668.2:g.33164407T>G	GRCh38
NC_000006.11:g.33132184T>G , CM000668.1:g.33132184T>G	GRCh37
NC_000006.10:g.33240162T>G	NCBI36
NG_011589.1:g.33062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.736A>C
ENST00000341947.7:c.4930A>C MANE Select	ENSP00000339915.2:p.Ser1644Arg
ENST00000341947.6:c.4930A>C	ENSP00000339915.2:p.Ser1644Arg
ENST00000361917.5:c.4609A>C	ENSP00000355123.1:p.Ser1537Arg
ENST00000374708.8:c.4672A>C	ENSP00000363840.4:p.Ser1558Arg
ENST00000477772.1:n.720A>C
NM_080679.2:c.4609A>C	NP_542410.2:p.Ser1537Arg
NM_080680.2:c.4930A>C	NP_542411.2:p.Ser1644Arg
NM_080681.2:c.4672A>C	NP_542412.2:p.Ser1558Arg
XM_011514298.1:c.4084A>C	XP_011512600.1:p.Ser1362Arg
XM_011514299.1:c.4216A>C	XP_011512601.1:p.Ser1406Arg
XM_011514300.1:c.4036A>C	XP_011512602.1:p.Ser1346Arg
XM_011514301.1:c.3973A>C	XP_011512603.1:p.Ser1325Arg
XM_011514302.1:c.3817A>C	XP_011512604.1:p.Ser1273Arg
XM_011514299.2:c.4216A>C	XP_011512601.1:p.Ser1406Arg
XM_011514300.2:c.4036A>C	XP_011512602.1:p.Ser1346Arg
XM_011514302.2:c.3817A>C	XP_011512604.1:p.Ser1273Arg
XM_017010250.1:c.4930A>C	XP_016865739.1:p.Ser1644Arg
XM_017010251.2:c.3748A>C	XP_016865740.1:p.Ser1250Arg
NM_080680.3:c.4930A>C MANE Select	NP_542411.2:p.Ser1644Arg
NM_080681.3:c.4672A>C	NP_542412.2:p.Ser1558Arg
NM_080679.3:c.4609A>C	NP_542410.2:p.Ser1537Arg