Canonical Allele Identifier: CA363616562

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164448-G-T
• MyVariant Identifiers: chr6:g.33132225G>T (hg19) ; chr6:g.33164448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164448G>T , CM000668.2:g.33164448G>T	GRCh38
NC_000006.11:g.33132225G>T , CM000668.1:g.33132225G>T	GRCh37
NC_000006.10:g.33240203G>T	NCBI36
NG_011589.1:g.33021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.695C>A
ENST00000341947.7:c.4889C>A MANE Select	ENSP00000339915.2:p.Ser1630Tyr
ENST00000341947.6:c.4889C>A	ENSP00000339915.2:p.Ser1630Tyr
ENST00000361917.5:c.4568C>A	ENSP00000355123.1:p.Ser1523Tyr
ENST00000374708.8:c.4631C>A	ENSP00000363840.4:p.Ser1544Tyr
ENST00000477772.1:n.679C>A
NM_080679.2:c.4568C>A	NP_542410.2:p.Ser1523Tyr
NM_080680.2:c.4889C>A	NP_542411.2:p.Ser1630Tyr
NM_080681.2:c.4631C>A	NP_542412.2:p.Ser1544Tyr
XM_011514298.1:c.4043C>A	XP_011512600.1:p.Ser1348Tyr
XM_011514299.1:c.4175C>A	XP_011512601.1:p.Ser1392Tyr
XM_011514300.1:c.3995C>A	XP_011512602.1:p.Ser1332Tyr
XM_011514301.1:c.3932C>A	XP_011512603.1:p.Ser1311Tyr
XM_011514302.1:c.3776C>A	XP_011512604.1:p.Ser1259Tyr
XM_011514299.2:c.4175C>A	XP_011512601.1:p.Ser1392Tyr
XM_011514300.2:c.3995C>A	XP_011512602.1:p.Ser1332Tyr
XM_011514302.2:c.3776C>A	XP_011512604.1:p.Ser1259Tyr
XM_017010250.1:c.4889C>A	XP_016865739.1:p.Ser1630Tyr
XM_017010251.2:c.3707C>A	XP_016865740.1:p.Ser1236Tyr
NM_080680.3:c.4889C>A MANE Select	NP_542411.2:p.Ser1630Tyr
NM_080681.3:c.4631C>A	NP_542412.2:p.Ser1544Tyr
NM_080679.3:c.4568C>A	NP_542410.2:p.Ser1523Tyr