Canonical Allele Identifier: CA363617783

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164943-T-C
• MyVariant Identifiers: chr6:g.33132720T>C (hg19) ; chr6:g.33164943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164943T>C , CM000668.2:g.33164943T>C	GRCh38
NC_000006.11:g.33132720T>C , CM000668.1:g.33132720T>C	GRCh37
NC_000006.10:g.33240698T>C	NCBI36
NG_011589.1:g.32526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.578A>G
ENST00000341947.7:c.4772A>G MANE Select	ENSP00000339915.2:p.Asn1591Ser
ENST00000341947.6:c.4772A>G	ENSP00000339915.2:p.Asn1591Ser
ENST00000361917.5:c.4451A>G	ENSP00000355123.1:p.Asn1484Ser
ENST00000374708.8:c.4514A>G	ENSP00000363840.4:p.Asn1505Ser
ENST00000477772.1:n.562A>G
NM_080679.2:c.4451A>G	NP_542410.2:p.Asn1484Ser
NM_080680.2:c.4772A>G	NP_542411.2:p.Asn1591Ser
NM_080681.2:c.4514A>G	NP_542412.2:p.Asn1505Ser
XM_011514298.1:c.3926A>G	XP_011512600.1:p.Asn1309Ser
XM_011514299.1:c.4058A>G	XP_011512601.1:p.Asn1353Ser
XM_011514300.1:c.3878A>G	XP_011512602.1:p.Asn1293Ser
XM_011514301.1:c.3815A>G	XP_011512603.1:p.Asn1272Ser
XM_011514302.1:c.3659A>G	XP_011512604.1:p.Asn1220Ser
XM_011514299.2:c.4058A>G	XP_011512601.1:p.Asn1353Ser
XM_011514300.2:c.3878A>G	XP_011512602.1:p.Asn1293Ser
XM_011514302.2:c.3659A>G	XP_011512604.1:p.Asn1220Ser
XM_017010250.1:c.4772A>G	XP_016865739.1:p.Asn1591Ser
XM_017010251.2:c.3590A>G	XP_016865740.1:p.Asn1197Ser
NM_080680.3:c.4772A>G MANE Select	NP_542411.2:p.Asn1591Ser
NM_080681.3:c.4514A>G	NP_542412.2:p.Asn1505Ser
NM_080679.3:c.4451A>G	NP_542410.2:p.Asn1484Ser