Canonical Allele Identifier: CA363616373

Gene: COL11A2

Linked Data

• dbSNP Id: rs1768778698
• MyVariant Identifiers: chr6:g.33132184T>C (hg19) ; chr6:g.33164407T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.736A>G
ENST00000341947.7:c.4930A>G MANE Select	ENSP00000339915.2:p.Ser1644Gly
ENST00000341947.6:c.4930A>G	ENSP00000339915.2:p.Ser1644Gly
ENST00000361917.5:c.4609A>G	ENSP00000355123.1:p.Ser1537Gly
ENST00000374708.8:c.4672A>G	ENSP00000363840.4:p.Ser1558Gly
ENST00000477772.1:n.720A>G
NM_080679.2:c.4609A>G	NP_542410.2:p.Ser1537Gly
NM_080680.2:c.4930A>G	NP_542411.2:p.Ser1644Gly
NM_080681.2:c.4672A>G	NP_542412.2:p.Ser1558Gly
XM_011514298.1:c.4084A>G	XP_011512600.1:p.Ser1362Gly
XM_011514299.1:c.4216A>G	XP_011512601.1:p.Ser1406Gly
XM_011514300.1:c.4036A>G	XP_011512602.1:p.Ser1346Gly
XM_011514301.1:c.3973A>G	XP_011512603.1:p.Ser1325Gly
XM_011514302.1:c.3817A>G	XP_011512604.1:p.Ser1273Gly
XM_011514299.2:c.4216A>G	XP_011512601.1:p.Ser1406Gly
XM_011514300.2:c.4036A>G	XP_011512602.1:p.Ser1346Gly
XM_011514302.2:c.3817A>G	XP_011512604.1:p.Ser1273Gly
XM_017010250.1:c.4930A>G	XP_016865739.1:p.Ser1644Gly
XM_017010251.2:c.3748A>G	XP_016865740.1:p.Ser1250Gly
NM_080680.3:c.4930A>G MANE Select	NP_542411.2:p.Ser1644Gly
NM_080681.3:c.4672A>G	NP_542412.2:p.Ser1558Gly
NM_080679.3:c.4609A>G	NP_542410.2:p.Ser1537Gly