Canonical Allele Identifier: CA449878287

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1959035
• ClinVar RCV Id: RCV002725765
• dbSNP Id: rs1370816589
• gnomAD v2: 6-33139556-G-A
• gnomAD v3: 6-33171779-G-A
• gnomAD v4: 6-33171779-G-A
• MyVariant Identifiers: chr6:g.33139556G>A (hg19) ; chr6:g.33171779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171779G>A , CM000668.2:g.33171779G>A	GRCh38
NC_000006.11:g.33139556G>A , CM000668.1:g.33139556G>A	GRCh37
NC_000006.10:g.33247534G>A	NCBI36
NG_011589.1:g.25690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3084C>T MANE Select	ENSP00000339915.2:p.Pro1028=
ENST00000341947.6:c.3084C>T	ENSP00000339915.2:p.Pro1028=
ENST00000361917.5:c.2763C>T	ENSP00000355123.1:p.Pro921=
ENST00000374708.8:c.2826C>T	ENSP00000363840.4:p.Pro942=
ENST00000477772.1:n.272+5230C>T
NM_080679.2:c.2763C>T	NP_542410.2:p.Pro921=
NM_080680.2:c.3084C>T	NP_542411.2:p.Pro1028=
NM_080681.2:c.2826C>T	NP_542412.2:p.Pro942=
XM_011514298.1:c.2238C>T	XP_011512600.1:p.Pro746=
XM_011514299.1:c.2370C>T	XP_011512601.1:p.Pro790=
XM_011514300.1:c.2190C>T	XP_011512602.1:p.Pro730=
XM_011514301.1:c.2127C>T	XP_011512603.1:p.Pro709=
XM_011514302.1:c.1971C>T	XP_011512604.1:p.Pro657=
XM_011514299.2:c.2370C>T	XP_011512601.1:p.Pro790=
XM_011514300.2:c.2190C>T	XP_011512602.1:p.Pro730=
XM_011514302.2:c.1971C>T	XP_011512604.1:p.Pro657=
XM_017010250.1:c.3084C>T	XP_016865739.1:p.Pro1028=
XM_017010251.2:c.1902C>T	XP_016865740.1:p.Pro634=
NM_080680.3:c.3084C>T MANE Select	NP_542411.2:p.Pro1028=
NM_080681.3:c.2826C>T	NP_542412.2:p.Pro942=
NM_080679.3:c.2763C>T	NP_542410.2:p.Pro921=