Canonical Allele Identifier: CA365635082

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505356G>C , CM000668.2:g.129505356G>C	GRCh38
NC_000006.11:g.129826501G>C , CM000668.1:g.129826501G>C	GRCh37
NC_000006.10:g.129868194G>C	NCBI36
NG_008678.1:g.627216G>C , LRG_409:g.627216G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8703+1G>C MANE Select	NP_000417.3:n.8703+1G>C
ENST00000421865.3:c.8703+1G>C MANE Select	ENSP00000400365.2:n.8703+1G>C
NM_000426.3:c.8703+1G>C , LRG_409t1:c.8703+1G>C	NP_000417.2:n.8703+1G>C
NM_001079823.1:c.8691+1G>C	NP_001073291.1:n.8691+1G>C
NM_001079823.2:c.8691+1G>C	NP_001073291.2:n.8691+1G>C
ENST00000421865.2:c.8703+1G>C	ENSP00000400365.2:n.8703+1G>C
ENST00000494137.2:c.768+1G>C	ENSP00000510626.1:n.768+1G>C
ENST00000498257.6:c.768+1G>C	ENSP00000510533.1:n.768+1G>C
ENST00000617695.4:c.8691+1G>C	ENSP00000481744.1:n.8691+1G>C
ENST00000617695.5:c.8691+1G>C	ENSP00000481744.2:n.8691+1G>C
ENST00000618192.4:c.8700+1G>C	ENSP00000480802.1:n.8700+1G>C
ENST00000618192.5:c.8967+1G>C	ENSP00000480802.2:n.8967+1G>C
ENST00000688198.1:n.1681+1G>C
ENST00000688799.1:c.768+1G>C	ENSP00000508458.1:n.768+1G>C
ENST00000690858.1:n.1697+1G>C
ENST00000693461.1:n.1040+1G>C
XM_005266981.2:c.8967+1G>C	XP_005267038.1:n.8967+1G>C
XM_005266981.3:c.8967+1G>C	XP_005267038.1:n.8967+1G>C
XM_005266982.2:c.8955+1G>C	XP_005267039.1:n.8955+1G>C
XM_005266982.3:c.8955+1G>C	XP_005267039.1:n.8955+1G>C
XM_011535820.1:c.8961+1G>C	XP_011534122.1:n.8961+1G>C
XM_011535820.2:c.8961+1G>C	XP_011534122.1:n.8961+1G>C
XM_017010851.2:c.8973+1G>C	XP_016866340.1:n.8973+1G>C
XM_017010852.1:c.7098+1G>C	XP_016866341.1:n.7098+1G>C
XR_001743859.1:n.3901-2565C>G
XR_001743860.1:n.1180-2565C>G
XR_001743861.1:n.1347-2565C>G
XR_001743863.1:n.883-2565C>G
XR_002956395.1:n.9132-2565C>G
XR_002956396.1:n.3127-2565C>G
XR_942984.1:n.1461-2565C>G
XR_942985.1:n.1325-2565C>G