Canonical Allele Identifier: CA449872161

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169464-T-C
• MyVariant Identifiers: chr6:g.33137241T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169464T>C , CM000668.2:g.33169464T>C	GRCh38
NC_000006.11:g.33137241T>C , CM000668.1:g.33137241T>C	GRCh37
NC_000006.10:g.33245219T>C	NCBI36
NG_011589.1:g.28005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3717A>G MANE Select	ENSP00000339915.2:p.Lys1239=
ENST00000341947.6:c.3717A>G	ENSP00000339915.2:p.Lys1239=
ENST00000361917.5:c.3396A>G	ENSP00000355123.1:p.Lys1132=
ENST00000374708.8:c.3459A>G	ENSP00000363840.4:p.Lys1153=
ENST00000477772.1:n.273-3648A>G
NM_080679.2:c.3396A>G	NP_542410.2:p.Lys1132=
NM_080680.2:c.3717A>G	NP_542411.2:p.Lys1239=
NM_080681.2:c.3459A>G	NP_542412.2:p.Lys1153=
XM_011514298.1:c.2871A>G	XP_011512600.1:p.Lys957=
XM_011514299.1:c.3003A>G	XP_011512601.1:p.Lys1001=
XM_011514300.1:c.2823A>G	XP_011512602.1:p.Lys941=
XM_011514301.1:c.2760A>G	XP_011512603.1:p.Lys920=
XM_011514302.1:c.2604A>G	XP_011512604.1:p.Lys868=
XM_011514299.2:c.3003A>G	XP_011512601.1:p.Lys1001=
XM_011514300.2:c.2823A>G	XP_011512602.1:p.Lys941=
XM_011514302.2:c.2604A>G	XP_011512604.1:p.Lys868=
XM_017010250.1:c.3717A>G	XP_016865739.1:p.Lys1239=
XM_017010251.2:c.2535A>G	XP_016865740.1:p.Lys845=
NM_080680.3:c.3717A>G MANE Select	NP_542411.2:p.Lys1239=
NM_080681.3:c.3459A>G	NP_542412.2:p.Lys1153=
NM_080679.3:c.3396A>G	NP_542410.2:p.Lys1132=