Canonical Allele Identifier: CA449876589

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171153-G-T
• MyVariant Identifiers: chr6:g.33138930G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171153G>T , CM000668.2:g.33171153G>T	GRCh38
NC_000006.11:g.33138930G>T , CM000668.1:g.33138930G>T	GRCh37
NC_000006.10:g.33246908G>T	NCBI36
NG_011589.1:g.26316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3327C>A MANE Select	ENSP00000339915.2:p.Pro1109=
ENST00000341947.6:c.3327C>A	ENSP00000339915.2:p.Pro1109=
ENST00000361917.5:c.3006C>A	ENSP00000355123.1:p.Pro1002=
ENST00000374708.8:c.3069C>A	ENSP00000363840.4:p.Pro1023=
ENST00000477772.1:n.273-5337C>A
NM_080679.2:c.3006C>A	NP_542410.2:p.Pro1002=
NM_080680.2:c.3327C>A	NP_542411.2:p.Pro1109=
NM_080681.2:c.3069C>A	NP_542412.2:p.Pro1023=
XM_011514298.1:c.2481C>A	XP_011512600.1:p.Pro827=
XM_011514299.1:c.2613C>A	XP_011512601.1:p.Pro871=
XM_011514300.1:c.2433C>A	XP_011512602.1:p.Pro811=
XM_011514301.1:c.2370C>A	XP_011512603.1:p.Pro790=
XM_011514302.1:c.2214C>A	XP_011512604.1:p.Pro738=
XM_011514299.2:c.2613C>A	XP_011512601.1:p.Pro871=
XM_011514300.2:c.2433C>A	XP_011512602.1:p.Pro811=
XM_011514302.2:c.2214C>A	XP_011512604.1:p.Pro738=
XM_017010250.1:c.3327C>A	XP_016865739.1:p.Pro1109=
XM_017010251.2:c.2145C>A	XP_016865740.1:p.Pro715=
NM_080680.3:c.3327C>A MANE Select	NP_542411.2:p.Pro1109=
NM_080681.3:c.3069C>A	NP_542412.2:p.Pro1023=
NM_080679.3:c.3006C>A	NP_542410.2:p.Pro1002=