Canonical Allele Identifier: CA137068710

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173930C>T , CM000668.2:g.33173930C>T	GRCh38
NC_000006.11:g.33141707C>T , CM000668.1:g.33141707C>T	GRCh37
NC_000006.10:g.33249685C>T	NCBI36
NG_011589.1:g.23539G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2530-4G>A MANE Select	NP_542411.2:n.2530-4G>A
ENST00000341947.7:c.2530-4G>A MANE Select	ENSP00000339915.2:n.2530-4G>A
NM_080679.2:c.2209-4G>A	NP_542410.2:n.2209-4G>A
NM_080679.3:c.2209-4G>A	NP_542410.2:n.2209-4G>A
NM_080680.2:c.2530-4G>A	NP_542411.2:n.2530-4G>A
NM_080681.2:c.2272-4G>A	NP_542412.2:n.2272-4G>A
NM_080681.3:c.2272-4G>A	NP_542412.2:n.2272-4G>A
ENST00000341947.6:c.2530-4G>A	ENSP00000339915.2:n.2530-4G>A
ENST00000361917.5:c.2209-4G>A	ENSP00000355123.1:n.2209-4G>A
ENST00000361917.6:c.1103-4G>A
ENST00000374708.8:c.2272-4G>A	ENSP00000363840.4:n.2272-4G>A
ENST00000477772.1:n.272+3079G>A
XM_011514298.1:c.1684-4G>A	XP_011512600.1:n.1684-4G>A
XM_011514299.1:c.1816-4G>A	XP_011512601.1:n.1816-4G>A
XM_011514299.2:c.1816-4G>A	XP_011512601.1:n.1816-4G>A
XM_011514300.1:c.1636-4G>A	XP_011512602.1:n.1636-4G>A
XM_011514300.2:c.1636-4G>A	XP_011512602.1:n.1636-4G>A
XM_011514301.1:c.1573-4G>A	XP_011512603.1:n.1573-4G>A
XM_011514302.1:c.1417-4G>A	XP_011512604.1:n.1417-4G>A
XM_011514302.2:c.1417-4G>A	XP_011512604.1:n.1417-4G>A
XM_017010250.1:c.2530-4G>A	XP_016865739.1:n.2530-4G>A
XM_017010251.2:c.1348-4G>A	XP_016865740.1:n.1348-4G>A