Canonical Allele Identifier: CA363616667

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132246G>A (hg19) ; chr6:g.33164469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164469G>A , CM000668.2:g.33164469G>A	GRCh38
NC_000006.11:g.33132246G>A , CM000668.1:g.33132246G>A	GRCh37
NC_000006.10:g.33240224G>A	NCBI36
NG_011589.1:g.33000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.674C>T
ENST00000341947.7:c.4868C>T MANE Select	ENSP00000339915.2:p.Ser1623Phe
ENST00000341947.6:c.4868C>T	ENSP00000339915.2:p.Ser1623Phe
ENST00000361917.5:c.4547C>T	ENSP00000355123.1:p.Ser1516Phe
ENST00000374708.8:c.4610C>T	ENSP00000363840.4:p.Ser1537Phe
ENST00000477772.1:n.658C>T
NM_080679.2:c.4547C>T	NP_542410.2:p.Ser1516Phe
NM_080680.2:c.4868C>T	NP_542411.2:p.Ser1623Phe
NM_080681.2:c.4610C>T	NP_542412.2:p.Ser1537Phe
XM_011514298.1:c.4022C>T	XP_011512600.1:p.Ser1341Phe
XM_011514299.1:c.4154C>T	XP_011512601.1:p.Ser1385Phe
XM_011514300.1:c.3974C>T	XP_011512602.1:p.Ser1325Phe
XM_011514301.1:c.3911C>T	XP_011512603.1:p.Ser1304Phe
XM_011514302.1:c.3755C>T	XP_011512604.1:p.Ser1252Phe
XM_011514299.2:c.4154C>T	XP_011512601.1:p.Ser1385Phe
XM_011514300.2:c.3974C>T	XP_011512602.1:p.Ser1325Phe
XM_011514302.2:c.3755C>T	XP_011512604.1:p.Ser1252Phe
XM_017010250.1:c.4868C>T	XP_016865739.1:p.Ser1623Phe
XM_017010251.2:c.3686C>T	XP_016865740.1:p.Ser1229Phe
NM_080680.3:c.4868C>T MANE Select	NP_542411.2:p.Ser1623Phe
NM_080681.3:c.4610C>T	NP_542412.2:p.Ser1537Phe
NM_080679.3:c.4547C>T	NP_542410.2:p.Ser1516Phe