Canonical Allele Identifier: CA449881440

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2898586
• ClinVar RCV Id: RCV003726510
• MyVariant Identifiers: chr6:g.33142325A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174548A>G , CM000668.2:g.33174548A>G	GRCh38
NC_000006.11:g.33142325A>G , CM000668.1:g.33142325A>G	GRCh37
NC_000006.10:g.33250303A>G	NCBI36
NG_011589.1:g.22921T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.982T>C
ENST00000341947.7:c.2409T>C MANE Select	ENSP00000339915.2:p.Tyr803=
ENST00000341947.6:c.2409T>C	ENSP00000339915.2:p.Tyr803=
ENST00000361917.5:c.2088T>C	ENSP00000355123.1:p.Tyr696=
ENST00000374708.8:c.2151T>C	ENSP00000363840.4:p.Tyr717=
ENST00000477772.1:n.272+2461T>C
NM_080679.2:c.2088T>C	NP_542410.2:p.Tyr696=
NM_080680.2:c.2409T>C	NP_542411.2:p.Tyr803=
NM_080681.2:c.2151T>C	NP_542412.2:p.Tyr717=
XM_011514298.1:c.1563T>C	XP_011512600.1:p.Tyr521=
XM_011514299.1:c.1695T>C	XP_011512601.1:p.Tyr565=
XM_011514300.1:c.1515T>C	XP_011512602.1:p.Tyr505=
XM_011514301.1:c.1452T>C	XP_011512603.1:p.Tyr484=
XM_011514302.1:c.1296T>C	XP_011512604.1:p.Tyr432=
XM_011514299.2:c.1695T>C	XP_011512601.1:p.Tyr565=
XM_011514300.2:c.1515T>C	XP_011512602.1:p.Tyr505=
XM_011514302.2:c.1296T>C	XP_011512604.1:p.Tyr432=
XM_017010250.1:c.2409T>C	XP_016865739.1:p.Tyr803=
XM_017010251.2:c.1227T>C	XP_016865740.1:p.Tyr409=
NM_080680.3:c.2409T>C MANE Select	NP_542411.2:p.Tyr803=
NM_080681.3:c.2151T>C	NP_542412.2:p.Tyr717=
NM_080679.3:c.2088T>C	NP_542410.2:p.Tyr696=