Canonical Allele Identifier: CA363616372

Gene: COL11A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.736A>T
ENST00000341947.7:c.4930A>T MANE Select	ENSP00000339915.2:p.Ser1644Cys
ENST00000341947.6:c.4930A>T	ENSP00000339915.2:p.Ser1644Cys
ENST00000361917.5:c.4609A>T	ENSP00000355123.1:p.Ser1537Cys
ENST00000374708.8:c.4672A>T	ENSP00000363840.4:p.Ser1558Cys
ENST00000477772.1:n.720A>T
NM_080679.2:c.4609A>T	NP_542410.2:p.Ser1537Cys
NM_080680.2:c.4930A>T	NP_542411.2:p.Ser1644Cys
NM_080681.2:c.4672A>T	NP_542412.2:p.Ser1558Cys
XM_011514298.1:c.4084A>T	XP_011512600.1:p.Ser1362Cys
XM_011514299.1:c.4216A>T	XP_011512601.1:p.Ser1406Cys
XM_011514300.1:c.4036A>T	XP_011512602.1:p.Ser1346Cys
XM_011514301.1:c.3973A>T	XP_011512603.1:p.Ser1325Cys
XM_011514302.1:c.3817A>T	XP_011512604.1:p.Ser1273Cys
XM_011514299.2:c.4216A>T	XP_011512601.1:p.Ser1406Cys
XM_011514300.2:c.4036A>T	XP_011512602.1:p.Ser1346Cys
XM_011514302.2:c.3817A>T	XP_011512604.1:p.Ser1273Cys
XM_017010250.1:c.4930A>T	XP_016865739.1:p.Ser1644Cys
XM_017010251.2:c.3748A>T	XP_016865740.1:p.Ser1250Cys
NM_080680.3:c.4930A>T MANE Select	NP_542411.2:p.Ser1644Cys
NM_080681.3:c.4672A>T	NP_542412.2:p.Ser1558Cys
NM_080679.3:c.4609A>T	NP_542410.2:p.Ser1537Cys