Canonical Allele Identifier: CA363617939

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164962-C-T
• MyVariant Identifiers: chr6:g.33132739C>T (hg19) ; chr6:g.33164962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164962C>T , CM000668.2:g.33164962C>T	GRCh38
NC_000006.11:g.33132739C>T , CM000668.1:g.33132739C>T	GRCh37
NC_000006.10:g.33240717C>T	NCBI36
NG_011589.1:g.32507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.559G>A
ENST00000341947.7:c.4753G>A MANE Select	ENSP00000339915.2:p.Glu1585Lys
ENST00000341947.6:c.4753G>A	ENSP00000339915.2:p.Glu1585Lys
ENST00000361917.5:c.4432G>A	ENSP00000355123.1:p.Glu1478Lys
ENST00000374708.8:c.4495G>A	ENSP00000363840.4:p.Glu1499Lys
ENST00000477772.1:n.543G>A
NM_080679.2:c.4432G>A	NP_542410.2:p.Glu1478Lys
NM_080680.2:c.4753G>A	NP_542411.2:p.Glu1585Lys
NM_080681.2:c.4495G>A	NP_542412.2:p.Glu1499Lys
XM_011514298.1:c.3907G>A	XP_011512600.1:p.Glu1303Lys
XM_011514299.1:c.4039G>A	XP_011512601.1:p.Glu1347Lys
XM_011514300.1:c.3859G>A	XP_011512602.1:p.Glu1287Lys
XM_011514301.1:c.3796G>A	XP_011512603.1:p.Glu1266Lys
XM_011514302.1:c.3640G>A	XP_011512604.1:p.Glu1214Lys
XM_011514299.2:c.4039G>A	XP_011512601.1:p.Glu1347Lys
XM_011514300.2:c.3859G>A	XP_011512602.1:p.Glu1287Lys
XM_011514302.2:c.3640G>A	XP_011512604.1:p.Glu1214Lys
XM_017010250.1:c.4753G>A	XP_016865739.1:p.Glu1585Lys
XM_017010251.2:c.3571G>A	XP_016865740.1:p.Glu1191Lys
NM_080680.3:c.4753G>A MANE Select	NP_542411.2:p.Glu1585Lys
NM_080681.3:c.4495G>A	NP_542412.2:p.Glu1499Lys
NM_080679.3:c.4432G>A	NP_542410.2:p.Glu1478Lys