Canonical Allele Identifier: CA449881449

Gene: COL11A2

Linked Data

• dbSNP Id: rs1770640269
• gnomAD v3: 6-33174554-A-G
• gnomAD v4: 6-33174554-A-G
• MyVariant Identifiers: chr6:g.33142331A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174554A>G , CM000668.2:g.33174554A>G	GRCh38
NC_000006.11:g.33142331A>G , CM000668.1:g.33142331A>G	GRCh37
NC_000006.10:g.33250309A>G	NCBI36
NG_011589.1:g.22915T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.976T>C
ENST00000341947.7:c.2403T>C MANE Select	ENSP00000339915.2:p.Pro801=
ENST00000341947.6:c.2403T>C	ENSP00000339915.2:p.Pro801=
ENST00000361917.5:c.2082T>C	ENSP00000355123.1:p.Pro694=
ENST00000374708.8:c.2145T>C	ENSP00000363840.4:p.Pro715=
ENST00000477772.1:n.272+2455T>C
NM_080679.2:c.2082T>C	NP_542410.2:p.Pro694=
NM_080680.2:c.2403T>C	NP_542411.2:p.Pro801=
NM_080681.2:c.2145T>C	NP_542412.2:p.Pro715=
XM_011514298.1:c.1557T>C	XP_011512600.1:p.Pro519=
XM_011514299.1:c.1689T>C	XP_011512601.1:p.Pro563=
XM_011514300.1:c.1509T>C	XP_011512602.1:p.Pro503=
XM_011514301.1:c.1446T>C	XP_011512603.1:p.Pro482=
XM_011514302.1:c.1290T>C	XP_011512604.1:p.Pro430=
XM_011514299.2:c.1689T>C	XP_011512601.1:p.Pro563=
XM_011514300.2:c.1509T>C	XP_011512602.1:p.Pro503=
XM_011514302.2:c.1290T>C	XP_011512604.1:p.Pro430=
XM_017010250.1:c.2403T>C	XP_016865739.1:p.Pro801=
XM_017010251.2:c.1221T>C	XP_016865740.1:p.Pro407=
NM_080680.3:c.2403T>C MANE Select	NP_542411.2:p.Pro801=
NM_080681.3:c.2145T>C	NP_542412.2:p.Pro715=
NM_080679.3:c.2082T>C	NP_542410.2:p.Pro694=