Canonical Allele Identifier: CA365634514

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503282T>C , CM000668.2:g.129503282T>C	GRCh38
NC_000006.11:g.129824427T>C , CM000668.1:g.129824427T>C	GRCh37
NC_000006.10:g.129866120T>C	NCBI36
NG_008678.1:g.625142T>C , LRG_409:g.625142T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8547+2T>C MANE Select	NP_000417.3:n.8547+2T>C
ENST00000421865.3:c.8547+2T>C MANE Select	ENSP00000400365.2:n.8547+2T>C
NM_000426.3:c.8547+2T>C , LRG_409t1:c.8547+2T>C	NP_000417.2:n.8547+2T>C
NM_001079823.1:c.8535+2T>C	NP_001073291.1:n.8535+2T>C
NM_001079823.2:c.8535+2T>C	NP_001073291.2:n.8535+2T>C
ENST00000421865.2:c.8547+2T>C	ENSP00000400365.2:n.8547+2T>C
ENST00000494137.2:c.612+2T>C	ENSP00000510626.1:n.612+2T>C
ENST00000498257.6:c.612+2T>C	ENSP00000510533.1:n.612+2T>C
ENST00000617695.4:c.8535+2T>C	ENSP00000481744.1:n.8535+2T>C
ENST00000617695.5:c.8535+2T>C	ENSP00000481744.2:n.8535+2T>C
ENST00000618192.4:c.8544+2T>C	ENSP00000480802.1:n.8544+2T>C
ENST00000618192.5:c.8811+2T>C	ENSP00000480802.2:n.8811+2T>C
ENST00000688198.1:n.1525+2T>C
ENST00000688799.1:c.612+2T>C	ENSP00000508458.1:n.612+2T>C
ENST00000690858.1:n.1541+2T>C
ENST00000693461.1:n.884+2T>C
XM_005266981.2:c.8811+2T>C	XP_005267038.1:n.8811+2T>C
XM_005266981.3:c.8811+2T>C	XP_005267038.1:n.8811+2T>C
XM_005266982.2:c.8799+2T>C	XP_005267039.1:n.8799+2T>C
XM_005266982.3:c.8799+2T>C	XP_005267039.1:n.8799+2T>C
XM_011535820.1:c.8805+2T>C	XP_011534122.1:n.8805+2T>C
XM_011535820.2:c.8805+2T>C	XP_011534122.1:n.8805+2T>C
XM_017010851.2:c.8817+2T>C	XP_016866340.1:n.8817+2T>C
XM_017010852.1:c.6942+2T>C	XP_016866341.1:n.6942+2T>C
XR_001743859.1:n.3901-491A>G
XR_001743860.1:n.1180-491A>G
XR_001743861.1:n.1347-491A>G
XR_001743863.1:n.883-491A>G
XR_002956395.1:n.9132-491A>G
XR_002956396.1:n.3127-491A>G
XR_942984.1:n.1461-491A>G
XR_942985.1:n.1325-491A>G