Canonical Allele Identifier: CA363616122

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164354-G-T
• MyVariant Identifiers: chr6:g.33132131G>T (hg19) ; chr6:g.33164354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164354G>T , CM000668.2:g.33164354G>T	GRCh38
NC_000006.11:g.33132131G>T , CM000668.1:g.33132131G>T	GRCh37
NC_000006.10:g.33240109G>T	NCBI36
NG_011589.1:g.33115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.789C>A
ENST00000341947.7:c.4983C>A MANE Select	ENSP00000339915.2:p.Asp1661Glu
ENST00000341947.6:c.4983C>A	ENSP00000339915.2:p.Asp1661Glu
ENST00000361917.5:c.4662C>A	ENSP00000355123.1:p.Asp1554Glu
ENST00000374708.8:c.4725C>A	ENSP00000363840.4:p.Asp1575Glu
ENST00000477772.1:n.773C>A
NM_080679.2:c.4662C>A	NP_542410.2:p.Asp1554Glu
NM_080680.2:c.4983C>A	NP_542411.2:p.Asp1661Glu
NM_080681.2:c.4725C>A	NP_542412.2:p.Asp1575Glu
XM_011514298.1:c.4137C>A	XP_011512600.1:p.Asp1379Glu
XM_011514299.1:c.4269C>A	XP_011512601.1:p.Asp1423Glu
XM_011514300.1:c.4089C>A	XP_011512602.1:p.Asp1363Glu
XM_011514301.1:c.4026C>A	XP_011512603.1:p.Asp1342Glu
XM_011514302.1:c.3870C>A	XP_011512604.1:p.Asp1290Glu
XM_011514299.2:c.4269C>A	XP_011512601.1:p.Asp1423Glu
XM_011514300.2:c.4089C>A	XP_011512602.1:p.Asp1363Glu
XM_011514302.2:c.3870C>A	XP_011512604.1:p.Asp1290Glu
XM_017010250.1:c.4983C>A	XP_016865739.1:p.Asp1661Glu
XM_017010251.2:c.3801C>A	XP_016865740.1:p.Asp1267Glu
NM_080680.3:c.4983C>A MANE Select	NP_542411.2:p.Asp1661Glu
NM_080681.3:c.4725C>A	NP_542412.2:p.Asp1575Glu
NM_080679.3:c.4662C>A	NP_542410.2:p.Asp1554Glu