Canonical Allele Identifier: CA3751352

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33179700G>A , CM000668.2:g.33179700G>A	GRCh38
NC_000006.11:g.33147477G>A , CM000668.1:g.33147477G>A	GRCh37
NC_000006.10:g.33255455G>A	NCBI36
NG_011589.1:g.17769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1446+19C>T MANE Select	NP_542411.2:n.1446+19C>T
ENST00000341947.7:c.1446+19C>T MANE Select	ENSP00000339915.2:n.1446+19C>T
NM_080679.2:c.1125+19C>T	NP_542410.2:n.1125+19C>T
NM_080679.3:c.1125+19C>T	NP_542410.2:n.1125+19C>T
NM_080680.2:c.1446+19C>T	NP_542411.2:n.1446+19C>T
NM_080681.2:c.1188+19C>T	NP_542412.2:n.1188+19C>T
NM_080681.3:c.1188+19C>T	NP_542412.2:n.1188+19C>T
ENST00000341947.6:c.1446+19C>T	ENSP00000339915.2:n.1446+19C>T
ENST00000361917.5:c.1125+19C>T	ENSP00000355123.1:n.1125+19C>T
ENST00000361917.6:c.73+19C>T
ENST00000374708.8:c.1188+19C>T	ENSP00000363840.4:n.1188+19C>T
ENST00000457788.5:c.1446+19C>T	ENSP00000405520.1:n.1446+19C>T
XM_011514298.1:c.600+19C>T	XP_011512600.1:n.600+19C>T
XM_011514299.1:c.732+19C>T	XP_011512601.1:n.732+19C>T
XM_011514299.2:c.732+19C>T	XP_011512601.1:n.732+19C>T
XM_011514300.1:c.552+19C>T	XP_011512602.1:n.552+19C>T
XM_011514300.2:c.552+19C>T	XP_011512602.1:n.552+19C>T
XM_011514301.1:c.489+19C>T	XP_011512603.1:n.489+19C>T
XM_011514302.1:c.333+19C>T	XP_011512604.1:n.333+19C>T
XM_011514302.2:c.333+19C>T	XP_011512604.1:n.333+19C>T
XM_017010250.1:c.1446+19C>T	XP_016865739.1:n.1446+19C>T
XM_017010251.2:c.264+19C>T	XP_016865740.1:n.264+19C>T