Canonical Allele Identifier: CA363617536

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164895-G-T
• MyVariant Identifiers: chr6:g.33132672G>T (hg19) ; chr6:g.33164895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164895G>T , CM000668.2:g.33164895G>T	GRCh38
NC_000006.11:g.33132672G>T , CM000668.1:g.33132672G>T	GRCh37
NC_000006.10:g.33240650G>T	NCBI36
NG_011589.1:g.32574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.626C>A
ENST00000341947.7:c.4820C>A MANE Select	ENSP00000339915.2:p.Ala1607Glu
ENST00000341947.6:c.4820C>A	ENSP00000339915.2:p.Ala1607Glu
ENST00000361917.5:c.4499C>A	ENSP00000355123.1:p.Ala1500Glu
ENST00000374708.8:c.4562C>A	ENSP00000363840.4:p.Ala1521Glu
ENST00000477772.1:n.610C>A
NM_080679.2:c.4499C>A	NP_542410.2:p.Ala1500Glu
NM_080680.2:c.4820C>A	NP_542411.2:p.Ala1607Glu
NM_080681.2:c.4562C>A	NP_542412.2:p.Ala1521Glu
XM_011514298.1:c.3974C>A	XP_011512600.1:p.Ala1325Glu
XM_011514299.1:c.4106C>A	XP_011512601.1:p.Ala1369Glu
XM_011514300.1:c.3926C>A	XP_011512602.1:p.Ala1309Glu
XM_011514301.1:c.3863C>A	XP_011512603.1:p.Ala1288Glu
XM_011514302.1:c.3707C>A	XP_011512604.1:p.Ala1236Glu
XM_011514299.2:c.4106C>A	XP_011512601.1:p.Ala1369Glu
XM_011514300.2:c.3926C>A	XP_011512602.1:p.Ala1309Glu
XM_011514302.2:c.3707C>A	XP_011512604.1:p.Ala1236Glu
XM_017010250.1:c.4820C>A	XP_016865739.1:p.Ala1607Glu
XM_017010251.2:c.3638C>A	XP_016865740.1:p.Ala1213Glu
NM_080680.3:c.4820C>A MANE Select	NP_542411.2:p.Ala1607Glu
NM_080681.3:c.4562C>A	NP_542412.2:p.Ala1521Glu
NM_080679.3:c.4499C>A	NP_542410.2:p.Ala1500Glu