Canonical Allele Identifier: CA2678229391

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169553-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169553T>G , CM000668.2:g.33169553T>G	GRCh38
NC_000006.11:g.33137330T>G , CM000668.1:g.33137330T>G	GRCh37
NC_000006.10:g.33245308T>G	NCBI36
NG_011589.1:g.27916A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3691-63A>C MANE Select	ENSP00000339915.2:n.3691-63A>C
ENST00000341947.6:c.3691-63A>C	ENSP00000339915.2:n.3691-63A>C
ENST00000361917.5:c.3370-63A>C	ENSP00000355123.1:n.3370-63A>C
ENST00000374708.8:c.3433-63A>C	ENSP00000363840.4:n.3433-63A>C
ENST00000477772.1:n.273-3737A>C
NM_080679.2:c.3370-63A>C	NP_542410.2:n.3370-63A>C
NM_080680.2:c.3691-63A>C	NP_542411.2:n.3691-63A>C
NM_080681.2:c.3433-63A>C	NP_542412.2:n.3433-63A>C
XM_011514298.1:c.2845-63A>C	XP_011512600.1:n.2845-63A>C
XM_011514299.1:c.2977-63A>C	XP_011512601.1:n.2977-63A>C
XM_011514300.1:c.2797-63A>C	XP_011512602.1:n.2797-63A>C
XM_011514301.1:c.2734-63A>C	XP_011512603.1:n.2734-63A>C
XM_011514302.1:c.2578-63A>C	XP_011512604.1:n.2578-63A>C
XM_011514299.2:c.2977-63A>C	XP_011512601.1:n.2977-63A>C
XM_011514300.2:c.2797-63A>C	XP_011512602.1:n.2797-63A>C
XM_011514302.2:c.2578-63A>C	XP_011512604.1:n.2578-63A>C
XM_017010250.1:c.3691-63A>C	XP_016865739.1:n.3691-63A>C
XM_017010251.2:c.2509-63A>C	XP_016865740.1:n.2509-63A>C
NM_080680.3:c.3691-63A>C MANE Select	NP_542411.2:n.3691-63A>C
NM_080681.3:c.3433-63A>C	NP_542412.2:n.3433-63A>C
NM_080679.3:c.3370-63A>C	NP_542410.2:n.3370-63A>C