Canonical Allele Identifier: CA363616536

Gene: COL11A2

Linked Data

• dbSNP Id: rs767650251
• gnomAD v2: 6-33132217-C-T
• MyVariant Identifiers: chr6:g.33132217C>T (hg19) ; chr6:g.33164440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164440C>T , CM000668.2:g.33164440C>T	GRCh38
NC_000006.11:g.33132217C>T , CM000668.1:g.33132217C>T	GRCh37
NC_000006.10:g.33240195C>T	NCBI36
NG_011589.1:g.33029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.703G>A
ENST00000341947.7:c.4897G>A MANE Select	ENSP00000339915.2:p.Gly1633Ser
ENST00000341947.6:c.4897G>A	ENSP00000339915.2:p.Gly1633Ser
ENST00000361917.5:c.4576G>A	ENSP00000355123.1:p.Gly1526Ser
ENST00000374708.8:c.4639G>A	ENSP00000363840.4:p.Gly1547Ser
ENST00000477772.1:n.687G>A
NM_080679.2:c.4576G>A	NP_542410.2:p.Gly1526Ser
NM_080680.2:c.4897G>A	NP_542411.2:p.Gly1633Ser
NM_080681.2:c.4639G>A	NP_542412.2:p.Gly1547Ser
XM_011514298.1:c.4051G>A	XP_011512600.1:p.Gly1351Ser
XM_011514299.1:c.4183G>A	XP_011512601.1:p.Gly1395Ser
XM_011514300.1:c.4003G>A	XP_011512602.1:p.Gly1335Ser
XM_011514301.1:c.3940G>A	XP_011512603.1:p.Gly1314Ser
XM_011514302.1:c.3784G>A	XP_011512604.1:p.Gly1262Ser
XM_011514299.2:c.4183G>A	XP_011512601.1:p.Gly1395Ser
XM_011514300.2:c.4003G>A	XP_011512602.1:p.Gly1335Ser
XM_011514302.2:c.3784G>A	XP_011512604.1:p.Gly1262Ser
XM_017010250.1:c.4897G>A	XP_016865739.1:p.Gly1633Ser
XM_017010251.2:c.3715G>A	XP_016865740.1:p.Gly1239Ser
NM_080680.3:c.4897G>A MANE Select	NP_542411.2:p.Gly1633Ser
NM_080681.3:c.4639G>A	NP_542412.2:p.Gly1547Ser
NM_080679.3:c.4576G>A	NP_542410.2:p.Gly1526Ser