Canonical Allele Identifier: CA365634926

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826447A>C (hg19) ; chr6:g.129505302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505302A>C , CM000668.2:g.129505302A>C	GRCh38
NC_000006.11:g.129826447A>C , CM000668.1:g.129826447A>C	GRCh37
NC_000006.10:g.129868140A>C	NCBI36
NG_008678.1:g.627162A>C , LRG_409:g.627162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.715A>C	ENSP00000510626.1:p.Met239Leu
ENST00000498257.6:c.715A>C	ENSP00000510533.1:p.Met239Leu
ENST00000617695.5:c.8638A>C	ENSP00000481744.2:p.Met2880Leu
ENST00000618192.5:c.8914A>C	ENSP00000480802.2:p.Met2972Leu
ENST00000688198.1:n.1628A>C
ENST00000688799.1:c.715A>C	ENSP00000508458.1:p.Met239Leu
ENST00000690858.1:n.1644A>C
ENST00000693461.1:n.987A>C
ENST00000421865.3:c.8650A>C MANE Select	ENSP00000400365.2:p.Met2884Leu
ENST00000421865.2:c.8650A>C	ENSP00000400365.2:p.Met2884Leu
ENST00000617695.4:c.8638A>C	ENSP00000481744.1:p.Met2880Leu
ENST00000618192.4:c.8647A>C	ENSP00000480802.1:p.Met2883Leu
NM_000426.3:c.8650A>C , LRG_409t1:c.8650A>C	NP_000417.2:p.Met2884Leu
NM_001079823.1:c.8638A>C	NP_001073291.1:p.Met2880Leu
XM_005266981.2:c.8914A>C	XP_005267038.1:p.Met2972Leu
XM_005266982.2:c.8902A>C	XP_005267039.1:p.Met2968Leu
XM_011535820.1:c.8908A>C	XP_011534122.1:p.Met2970Leu
XR_942984.1:n.1461-2511T>G
XR_942985.1:n.1325-2511T>G
XM_005266981.3:c.8914A>C	XP_005267038.1:p.Met2972Leu
XM_005266982.3:c.8902A>C	XP_005267039.1:p.Met2968Leu
XM_011535820.2:c.8908A>C	XP_011534122.1:p.Met2970Leu
XM_017010851.2:c.8920A>C	XP_016866340.1:p.Met2974Leu
XM_017010852.1:c.7045A>C	XP_016866341.1:p.Met2349Leu
XR_001743859.1:n.3901-2511T>G
XR_001743860.1:n.1180-2511T>G
XR_001743861.1:n.1347-2511T>G
XR_001743863.1:n.883-2511T>G
XR_002956395.1:n.9132-2511T>G
XR_002956396.1:n.3127-2511T>G
NM_000426.4:c.8650A>C MANE Select	NP_000417.3:p.Met2884Leu
NM_001079823.2:c.8638A>C	NP_001073291.2:p.Met2880Leu