Canonical Allele Identifier: CA363617582

Gene: COL11A2

Linked Data

• dbSNP Id: rs1768891089
• gnomAD v4: 6-33164904-T-C
• MyVariant Identifiers: chr6:g.33132681T>C (hg19) ; chr6:g.33164904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164904T>C , CM000668.2:g.33164904T>C	GRCh38
NC_000006.11:g.33132681T>C , CM000668.1:g.33132681T>C	GRCh37
NC_000006.10:g.33240659T>C	NCBI36
NG_011589.1:g.32565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.617A>G
ENST00000341947.7:c.4811A>G MANE Select	ENSP00000339915.2:p.Asn1604Ser
ENST00000341947.6:c.4811A>G	ENSP00000339915.2:p.Asn1604Ser
ENST00000361917.5:c.4490A>G	ENSP00000355123.1:p.Asn1497Ser
ENST00000374708.8:c.4553A>G	ENSP00000363840.4:p.Asn1518Ser
ENST00000477772.1:n.601A>G
NM_080679.2:c.4490A>G	NP_542410.2:p.Asn1497Ser
NM_080680.2:c.4811A>G	NP_542411.2:p.Asn1604Ser
NM_080681.2:c.4553A>G	NP_542412.2:p.Asn1518Ser
XM_011514298.1:c.3965A>G	XP_011512600.1:p.Asn1322Ser
XM_011514299.1:c.4097A>G	XP_011512601.1:p.Asn1366Ser
XM_011514300.1:c.3917A>G	XP_011512602.1:p.Asn1306Ser
XM_011514301.1:c.3854A>G	XP_011512603.1:p.Asn1285Ser
XM_011514302.1:c.3698A>G	XP_011512604.1:p.Asn1233Ser
XM_011514299.2:c.4097A>G	XP_011512601.1:p.Asn1366Ser
XM_011514300.2:c.3917A>G	XP_011512602.1:p.Asn1306Ser
XM_011514302.2:c.3698A>G	XP_011512604.1:p.Asn1233Ser
XM_017010250.1:c.4811A>G	XP_016865739.1:p.Asn1604Ser
XM_017010251.2:c.3629A>G	XP_016865740.1:p.Asn1210Ser
NM_080680.3:c.4811A>G MANE Select	NP_542411.2:p.Asn1604Ser
NM_080681.3:c.4553A>G	NP_542412.2:p.Asn1518Ser
NM_080679.3:c.4490A>G	NP_542410.2:p.Asn1497Ser