Canonical Allele Identifier: CA363617520

Gene: COL11A2

Linked Data

• dbSNP Id: rs1297341882
• gnomAD v3: 6-33164890-C-T
• gnomAD v4: 6-33164890-C-T
• MyVariant Identifiers: chr6:g.33132667C>T (hg19) ; chr6:g.33164890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164890C>T , CM000668.2:g.33164890C>T	GRCh38
NC_000006.11:g.33132667C>T , CM000668.1:g.33132667C>T	GRCh37
NC_000006.10:g.33240645C>T	NCBI36
NG_011589.1:g.32579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.631G>A
ENST00000341947.7:c.4825G>A MANE Select	ENSP00000339915.2:p.Gly1609Ser
ENST00000341947.6:c.4825G>A	ENSP00000339915.2:p.Gly1609Ser
ENST00000361917.5:c.4504G>A	ENSP00000355123.1:p.Gly1502Ser
ENST00000374708.8:c.4567G>A	ENSP00000363840.4:p.Gly1523Ser
ENST00000477772.1:n.615G>A
NM_080679.2:c.4504G>A	NP_542410.2:p.Gly1502Ser
NM_080680.2:c.4825G>A	NP_542411.2:p.Gly1609Ser
NM_080681.2:c.4567G>A	NP_542412.2:p.Gly1523Ser
XM_011514298.1:c.3979G>A	XP_011512600.1:p.Gly1327Ser
XM_011514299.1:c.4111G>A	XP_011512601.1:p.Gly1371Ser
XM_011514300.1:c.3931G>A	XP_011512602.1:p.Gly1311Ser
XM_011514301.1:c.3868G>A	XP_011512603.1:p.Gly1290Ser
XM_011514302.1:c.3712G>A	XP_011512604.1:p.Gly1238Ser
XM_011514299.2:c.4111G>A	XP_011512601.1:p.Gly1371Ser
XM_011514300.2:c.3931G>A	XP_011512602.1:p.Gly1311Ser
XM_011514302.2:c.3712G>A	XP_011512604.1:p.Gly1238Ser
XM_017010250.1:c.4825G>A	XP_016865739.1:p.Gly1609Ser
XM_017010251.2:c.3643G>A	XP_016865740.1:p.Gly1215Ser
NM_080680.3:c.4825G>A MANE Select	NP_542411.2:p.Gly1609Ser
NM_080681.3:c.4567G>A	NP_542412.2:p.Gly1523Ser
NM_080679.3:c.4504G>A	NP_542410.2:p.Gly1502Ser