Canonical Allele Identifier: CA449876504

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171135-A-T
• MyVariant Identifiers: chr6:g.33138912A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171135A>T , CM000668.2:g.33171135A>T	GRCh38
NC_000006.11:g.33138912A>T , CM000668.1:g.33138912A>T	GRCh37
NC_000006.10:g.33246890A>T	NCBI36
NG_011589.1:g.26334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3345T>A MANE Select	ENSP00000339915.2:p.Pro1115=
ENST00000341947.6:c.3345T>A	ENSP00000339915.2:p.Pro1115=
ENST00000361917.5:c.3024T>A	ENSP00000355123.1:p.Pro1008=
ENST00000374708.8:c.3087T>A	ENSP00000363840.4:p.Pro1029=
ENST00000477772.1:n.273-5319T>A
NM_080679.2:c.3024T>A	NP_542410.2:p.Pro1008=
NM_080680.2:c.3345T>A	NP_542411.2:p.Pro1115=
NM_080681.2:c.3087T>A	NP_542412.2:p.Pro1029=
XM_011514298.1:c.2499T>A	XP_011512600.1:p.Pro833=
XM_011514299.1:c.2631T>A	XP_011512601.1:p.Pro877=
XM_011514300.1:c.2451T>A	XP_011512602.1:p.Pro817=
XM_011514301.1:c.2388T>A	XP_011512603.1:p.Pro796=
XM_011514302.1:c.2232T>A	XP_011512604.1:p.Pro744=
XM_011514299.2:c.2631T>A	XP_011512601.1:p.Pro877=
XM_011514300.2:c.2451T>A	XP_011512602.1:p.Pro817=
XM_011514302.2:c.2232T>A	XP_011512604.1:p.Pro744=
XM_017010250.1:c.3345T>A	XP_016865739.1:p.Pro1115=
XM_017010251.2:c.2163T>A	XP_016865740.1:p.Pro721=
NM_080680.3:c.3345T>A MANE Select	NP_542411.2:p.Pro1115=
NM_080681.3:c.3087T>A	NP_542412.2:p.Pro1029=
NM_080679.3:c.3024T>A	NP_542410.2:p.Pro1008=