Canonical Allele Identifier: CA363616599

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164455-C-T
• COSMIC: COSM3358014
• MyVariant Identifiers: chr6:g.33132232C>T (hg19) ; chr6:g.33164455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164455C>T , CM000668.2:g.33164455C>T	GRCh38
NC_000006.11:g.33132232C>T , CM000668.1:g.33132232C>T	GRCh37
NC_000006.10:g.33240210C>T	NCBI36
NG_011589.1:g.33014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.688G>A
ENST00000341947.7:c.4882G>A MANE Select	ENSP00000339915.2:p.Glu1628Lys
ENST00000341947.6:c.4882G>A	ENSP00000339915.2:p.Glu1628Lys
ENST00000361917.5:c.4561G>A	ENSP00000355123.1:p.Glu1521Lys
ENST00000374708.8:c.4624G>A	ENSP00000363840.4:p.Glu1542Lys
ENST00000477772.1:n.672G>A
NM_080679.2:c.4561G>A	NP_542410.2:p.Glu1521Lys
NM_080680.2:c.4882G>A	NP_542411.2:p.Glu1628Lys
NM_080681.2:c.4624G>A	NP_542412.2:p.Glu1542Lys
XM_011514298.1:c.4036G>A	XP_011512600.1:p.Glu1346Lys
XM_011514299.1:c.4168G>A	XP_011512601.1:p.Glu1390Lys
XM_011514300.1:c.3988G>A	XP_011512602.1:p.Glu1330Lys
XM_011514301.1:c.3925G>A	XP_011512603.1:p.Glu1309Lys
XM_011514302.1:c.3769G>A	XP_011512604.1:p.Glu1257Lys
XM_011514299.2:c.4168G>A	XP_011512601.1:p.Glu1390Lys
XM_011514300.2:c.3988G>A	XP_011512602.1:p.Glu1330Lys
XM_011514302.2:c.3769G>A	XP_011512604.1:p.Glu1257Lys
XM_017010250.1:c.4882G>A	XP_016865739.1:p.Glu1628Lys
XM_017010251.2:c.3700G>A	XP_016865740.1:p.Glu1234Lys
NM_080680.3:c.4882G>A MANE Select	NP_542411.2:p.Glu1628Lys
NM_080681.3:c.4624G>A	NP_542412.2:p.Glu1542Lys
NM_080679.3:c.4561G>A	NP_542410.2:p.Glu1521Lys