Canonical Allele Identifier: CA363616370

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164406-C-T
• MyVariant Identifiers: chr6:g.33132183C>T (hg19) ; chr6:g.33164406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164406C>T , CM000668.2:g.33164406C>T	GRCh38
NC_000006.11:g.33132183C>T , CM000668.1:g.33132183C>T	GRCh37
NC_000006.10:g.33240161C>T	NCBI36
NG_011589.1:g.33063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.737G>A
ENST00000341947.7:c.4931G>A MANE Select	ENSP00000339915.2:p.Ser1644Asn
ENST00000341947.6:c.4931G>A	ENSP00000339915.2:p.Ser1644Asn
ENST00000361917.5:c.4610G>A	ENSP00000355123.1:p.Ser1537Asn
ENST00000374708.8:c.4673G>A	ENSP00000363840.4:p.Ser1558Asn
ENST00000477772.1:n.721G>A
NM_080679.2:c.4610G>A	NP_542410.2:p.Ser1537Asn
NM_080680.2:c.4931G>A	NP_542411.2:p.Ser1644Asn
NM_080681.2:c.4673G>A	NP_542412.2:p.Ser1558Asn
XM_011514298.1:c.4085G>A	XP_011512600.1:p.Ser1362Asn
XM_011514299.1:c.4217G>A	XP_011512601.1:p.Ser1406Asn
XM_011514300.1:c.4037G>A	XP_011512602.1:p.Ser1346Asn
XM_011514301.1:c.3974G>A	XP_011512603.1:p.Ser1325Asn
XM_011514302.1:c.3818G>A	XP_011512604.1:p.Ser1273Asn
XM_011514299.2:c.4217G>A	XP_011512601.1:p.Ser1406Asn
XM_011514300.2:c.4037G>A	XP_011512602.1:p.Ser1346Asn
XM_011514302.2:c.3818G>A	XP_011512604.1:p.Ser1273Asn
XM_017010250.1:c.4931G>A	XP_016865739.1:p.Ser1644Asn
XM_017010251.2:c.3749G>A	XP_016865740.1:p.Ser1250Asn
NM_080680.3:c.4931G>A MANE Select	NP_542411.2:p.Ser1644Asn
NM_080681.3:c.4673G>A	NP_542412.2:p.Ser1558Asn
NM_080679.3:c.4610G>A	NP_542410.2:p.Ser1537Asn